Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32356426_32356798del | CA2499222288 | BRCA2 | c.7436-2_7617+189del c.7067-2_7248+189del n.7436-2_7617+189del c.7340-2_7521+189del | ClinVar dbSNP |
13 | g.32356435del | CA025092 | BRCA2 | c.7443del (p.Thr2482GlnfsTer?) c.7074del (p.Thr2359GlnfsTer?) c.8del n.7443del c.7347del (p.Thr2450GlnfsTer?) | ClinVar dbSNP |
13 | g.32356435T>A | CA483260351 | BRCA2 | c.7443T>A (p.Ile2481=) c.7074T>A (p.Ile2358=) c.8T>A n.7443T>A c.7347T>A (p.Ile2449=) | |
13 | g.32356435T>C | CA483260352 | BRCA2 | c.7443T>C (p.Ile2481=) c.7074T>C (p.Ile2358=) c.8T>C n.7443T>C c.7347T>C (p.Ile2449=) | |
13 | g.32356435T>G | CA387742997 | BRCA2 | c.7443T>G (p.Ile2481Met) c.7074T>G (p.Ile2358Met) c.8T>G n.7443T>G c.7347T>G (p.Ile2449Met) | |
13 | g.32356436A= | CA2082814068 | BRCA2 | c.7444A= (p.Thr2482=) c.7075A= (p.Thr2359=) c.9A= n.7444A= c.7348A= (p.Thr2450=) | |
13 | g.32356436A>C | CA387743007 | BRCA2 | c.7444A>C (p.Thr2482Pro) c.7075A>C (p.Thr2359Pro) c.9A>C n.7444A>C c.7348A>C (p.Thr2450Pro) | |
13 | g.32356436A>G | CA387743003 | BRCA2 | c.7444A>G (p.Thr2482Ala) c.7075A>G (p.Thr2359Ala) c.9A>G n.7444A>G c.7348A>G (p.Thr2450Ala) | ClinVar dbSNP gnomAD v4 |
13 | g.32356436A>T | CA387743001 | BRCA2 | c.7444A>T (p.Thr2482Ser) c.7075A>T (p.Thr2359Ser) c.9A>T n.7444A>T c.7348A>T (p.Thr2450Ser) | dbSNP |
13 | g.32356437C>A | CA387743014 | BRCA2 | c.7445C>A (p.Thr2482Lys) c.7076C>A (p.Thr2359Lys) c.10C>A n.7445C>A c.7349C>A (p.Thr2450Lys) | |
13 | g.32356437C= | CA2082814070 | BRCA2 | c.7445C= (p.Thr2482=) c.7076C= (p.Thr2359=) c.10C= n.7445C= c.7349C= (p.Thr2450=) | |
13 | g.32356437C>G | CA387743016 | BRCA2 | c.7445C>G (p.Thr2482Arg) c.7076C>G (p.Thr2359Arg) c.10C>G n.7445C>G c.7349C>G (p.Thr2450Arg) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.32356437C>T | CA387743018 | BRCA2 | c.7445C>T (p.Thr2482Ile) c.7076C>T (p.Thr2359Ile) c.10C>T n.7445C>T c.7349C>T (p.Thr2450Ile) | dbSNP |
13 | g.32356437_32356438delinsCA | CA2082814071 | BRCA2 | c.7445_7446delinsCA (p.Thr2482=) c.7076_7077delinsCA (p.Thr2359=) c.10_11delinsCA n.7445_7446delinsCA c.7349_7350delinsCA (p.Thr2450=) | |
13 | g.32356438A>C | CA483260353 | BRCA2 | c.7446A>C (p.Thr2482=) c.7077A>C (p.Thr2359=) c.11A>C n.7446A>C c.7350A>C (p.Thr2450=) | |
13 | g.32356438A>G | CA483260354 | BRCA2 | c.7446A>G (p.Thr2482=) c.7077A>G (p.Thr2359=) c.11A>G n.7446A>G c.7350A>G (p.Thr2450=) | gnomAD v4 |
13 | g.32356438A>T | CA483260355 | BRCA2 | c.7446A>T (p.Thr2482=) c.7077A>T (p.Thr2359=) c.11A>T n.7446A>T c.7350A>T (p.Thr2450=) | dbSNP |
13 | g.32356439del | CA16614002 | BRCA2 | c.7447del (p.Ser2483ValfsTer?) c.7078del (p.Ser2360ValfsTer?) c.12del n.7447del c.7351del (p.Ser2451ValfsTer?) | ClinVar dbSNP |
13 | g.32356439A= | CA2082814082 | BRCA2 | c.7447A= (p.Ser2483=) c.7078A= (p.Ser2360=) c.12A= n.7447A= c.7351A= (p.Ser2451=) | |
13 | g.32356439A>C | CA387743021 | BRCA2 | c.7447A>C (p.Ser2483Arg) c.7078A>C (p.Ser2360Arg) c.12A>C n.7447A>C c.7351A>C (p.Ser2451Arg) | |
13 | g.32356439A>G | CA025093 | BRCA2 | c.7447A>G (p.Ser2483Gly) c.7078A>G (p.Ser2360Gly) c.12A>G n.7447A>G c.7351A>G (p.Ser2451Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356439A>T | CA387743026 | BRCA2 | c.7447A>T (p.Ser2483Cys) c.7078A>T (p.Ser2360Cys) c.12A>T n.7447A>T c.7351A>T (p.Ser2451Cys) | ClinVar dbSNP COSMIC COSMIC |
13 | g.32356440G>A | CA025094 | BRCA2 | c.7448G>A (p.Ser2483Asn) c.7079G>A (p.Ser2360Asn) c.13G>A n.7448G>A c.7352G>A (p.Ser2451Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356440G>C | CA387743029 | BRCA2 | c.7448G>C (p.Ser2483Thr) c.7079G>C (p.Ser2360Thr) c.13G>C n.7448G>C c.7352G>C (p.Ser2451Thr) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.32356440G= | CA2082814090 | BRCA2 | c.7448G= (p.Ser2483=) c.7079G= (p.Ser2360=) c.13G= n.7448G= c.7352G= (p.Ser2451=) | |
13 | g.32356440G>T | CA387743032 | BRCA2 | c.7448G>T (p.Ser2483Ile) c.7079G>T (p.Ser2360Ile) c.13G>T n.7448G>T c.7352G>T (p.Ser2451Ile) | |
13 | g.32356441T>A | CA387743035 | BRCA2 | c.7449T>A (p.Ser2483Arg) c.7080T>A (p.Ser2360Arg) c.14T>A n.7449T>A c.7353T>A (p.Ser2451Arg) | dbSNP |
13 | g.32356441T>C | CA483260356 | BRCA2 | c.7449T>C (p.Ser2483=) c.7080T>C (p.Ser2360=) c.14T>C n.7449T>C c.7353T>C (p.Ser2451=) | dbSNP |
13 | g.32356441T>G | CA387743039 | BRCA2 | c.7449T>G (p.Ser2483Arg) c.7080T>G (p.Ser2360Arg) c.14T>G n.7449T>G c.7353T>G (p.Ser2451Arg) | ClinVar dbSNP |
13 | g.32356441T= | CA2082814098 | BRCA2 | c.7449T= (p.Ser2483=) c.7080T= (p.Ser2360=) c.14T= n.7449T= c.7353T= (p.Ser2451=) | |
13 | g.32356442C>A | CA387743042 | BRCA2 | c.7450C>A (p.Leu2484Ile) c.7081C>A (p.Leu2361Ile) c.15C>A n.7450C>A c.7354C>A (p.Leu2452Ile) | |
13 | g.32356442C>G | CA387743052 | BRCA2 | c.7450C>G (p.Leu2484Val) c.7081C>G (p.Leu2361Val) c.15C>G n.7450C>G c.7354C>G (p.Leu2452Val) | dbSNP |
13 | g.32356442C>T | CA387743055 | BRCA2 | c.7450C>T (p.Leu2484Phe) c.7081C>T (p.Leu2361Phe) c.15C>T n.7450C>T c.7354C>T (p.Leu2452Phe) | dbSNP gnomAD v4 |
13 | g.32356443T>A | CA387743063 | BRCA2 | c.7451T>A (p.Leu2484His) c.7082T>A (p.Leu2361His) c.16T>A n.7451T>A c.7355T>A (p.Leu2452His) | |
13 | g.32356443T>C | CA387743069 | BRCA2 | c.7451T>C (p.Leu2484Pro) c.7082T>C (p.Leu2361Pro) c.16T>C n.7451T>C c.7355T>C (p.Leu2452Pro) | |
13 | g.32356443T>G | CA387743060 | BRCA2 | c.7451T>G (p.Leu2484Arg) c.7082T>G (p.Leu2361Arg) c.16T>G n.7451T>G c.7355T>G (p.Leu2452Arg) | |
13 | g.32356444T>A | CA483260357 | BRCA2 | c.7452T>A (p.Leu2484=) c.7083T>A (p.Leu2361=) c.17T>A n.7452T>A c.7356T>A (p.Leu2452=) | |
13 | g.32356444T>C | CA483260358 | BRCA2 | c.7452T>C (p.Leu2484=) c.7083T>C (p.Leu2361=) c.17T>C n.7452T>C c.7356T>C (p.Leu2452=) | ClinVar dbSNP |
13 | g.32356444T>G | CA483260359 | BRCA2 | c.7452T>G (p.Leu2484=) c.7083T>G (p.Leu2361=) c.17T>G n.7452T>G c.7356T>G (p.Leu2452=) | |
13 | g.32356445C>A | CA387743073 | BRCA2 | c.7453C>A (p.Gln2485Lys) c.7084C>A (p.Gln2362Lys) c.18C>A n.7453C>A c.7357C>A (p.Gln2453Lys) | dbSNP gnomAD v4 |
13 | g.32356445C= | CA2082814105 | BRCA2 | c.7453C= (p.Gln2485=) c.7084C= (p.Gln2362=) c.18C= n.7453C= c.7357C= (p.Gln2453=) | |
13 | g.32356445C>G | CA387743077 | BRCA2 | c.7453C>G (p.Gln2485Glu) c.7084C>G (p.Gln2362Glu) c.18C>G n.7453C>G c.7357C>G (p.Gln2453Glu) | dbSNP |
13 | g.32356445C>T | CA387743079 | BRCA2 | c.7453C>T (p.Gln2485Ter) c.7084C>T (p.Gln2362Ter) c.18C>T n.7453C>T c.7357C>T (p.Gln2453Ter) | ClinVar dbSNP gnomAD v4 |
13 | g.32356446A>C | CA387743081 | BRCA2 | c.7454A>C (p.Gln2485Pro) c.7085A>C (p.Gln2362Pro) c.19A>C n.7454A>C c.7358A>C (p.Gln2453Pro) | |
13 | g.32356446A>G | CA387743085 | BRCA2 | c.7454A>G (p.Gln2485Arg) c.7085A>G (p.Gln2362Arg) c.19A>G n.7454A>G c.7358A>G (p.Gln2453Arg) | dbSNP |
13 | g.32356446A>T | CA387743088 | BRCA2 | c.7454A>T (p.Gln2485Leu) c.7085A>T (p.Gln2362Leu) c.19A>T n.7454A>T c.7358A>T (p.Gln2453Leu) | dbSNP |
13 | g.32356446_32356472delinsAGAATGCCAGAGATATACAGGATATGC | CA2082814115 | BRCA2 | c.7454_7480delinsAGAATGCCAGAGATATACAGGATATGC (p.Gln2485=) c.7085_7111delinsAGAATGCCAGAGATATACAGGATATGC (p.Gln2362=) c.19_45delinsAGAATGCCAGAGATATACAGGATATGC n.7454_7480delinsAGAATGCCAGAGATATACAGGATATGC c.7358_7384delinsAGAATGCCAGAGATATACAGGATATGC (p.Gln2453=) | |
13 | g.32356447G>A | CA483260360 | BRCA2 | c.7455G>A (p.Gln2485=) c.7086G>A (p.Gln2362=) c.20G>A n.7455G>A c.7359G>A (p.Gln2453=) | ClinVar dbSNP |
13 | g.32356447G>C | CA387743092 | BRCA2 | c.7455G>C (p.Gln2485His) c.7086G>C (p.Gln2362His) c.20G>C n.7455G>C c.7359G>C (p.Gln2453His) | dbSNP |
13 | g.32356447G>T | CA387743095 | BRCA2 | c.7455G>T (p.Gln2485His) c.7086G>T (p.Gln2362His) c.20G>T n.7455G>T c.7359G>T (p.Gln2453His) | |
13 | g.32356451_32356476del | CA16619762 | BRCA2 | c.7459_7484del (p.Ala2487Ter) c.7090_7115del (p.Ala2364Ter) c.24_49del n.7459_7484del c.7363_7388del (p.Ala2455Ter) | ClinVar dbSNP |
13 | g.32356448A= | CA2082814126 | BRCA2 | c.7456A= (p.Asn2486=) c.7087A= (p.Asn2363=) c.21A= n.7456A= c.7360A= (p.Asn2454=) | |
13 | g.32356448A>C | CA387743098 | BRCA2 | c.7456A>C (p.Asn2486His) c.7087A>C (p.Asn2363His) c.21A>C n.7456A>C c.7360A>C (p.Asn2454His) | |
13 | g.32356448A>G | CA025095 | BRCA2 | c.7456A>G (p.Asn2486Asp) c.7087A>G (p.Asn2363Asp) c.21A>G n.7456A>G c.7360A>G (p.Asn2454Asp) | ClinVar dbSNP |
13 | g.32356448A>T | CA387743105 | BRCA2 | c.7456A>T (p.Asn2486Tyr) c.7087A>T (p.Asn2363Tyr) c.21A>T n.7456A>T c.7360A>T (p.Asn2454Tyr) | dbSNP |
13 | g.32356449A= | CA2082814132 | BRCA2 | c.7457A= (p.Asn2486=) c.7088A= (p.Asn2363=) c.22A= n.7457A= c.7361A= (p.Asn2454=) | |
13 | g.32356449A>C | CA387743113 | BRCA2 | c.7457A>C (p.Asn2486Thr) c.7088A>C (p.Asn2363Thr) c.22A>C n.7457A>C c.7361A>C (p.Asn2454Thr) | |
13 | g.32356449A>G | CA025096 | BRCA2 | c.7457A>G (p.Asn2486Ser) c.7088A>G (p.Asn2363Ser) c.22A>G n.7457A>G c.7361A>G (p.Asn2454Ser) | ClinVar dbSNP gnomAD v4 |
13 | g.32356449A>T | CA387743108 | BRCA2 | c.7457A>T (p.Asn2486Ile) c.7088A>T (p.Asn2363Ile) c.22A>T n.7457A>T c.7361A>T (p.Asn2454Ile) | |
13 | g.32356450T>A | CA387743117 | BRCA2 | c.7458T>A (p.Asn2486Lys) c.7089T>A (p.Asn2363Lys) c.23T>A n.7458T>A c.7362T>A (p.Asn2454Lys) | dbSNP |
13 | g.32356450T>C | CA483260361 | BRCA2 | c.7458T>C (p.Asn2486=) c.7089T>C (p.Asn2363=) c.23T>C n.7458T>C c.7362T>C (p.Asn2454=) | ClinVar dbSNP |
13 | g.32356450T>G | CA387743121 | BRCA2 | c.7458T>G (p.Asn2486Lys) c.7089T>G (p.Asn2363Lys) c.23T>G n.7458T>G c.7362T>G (p.Asn2454Lys) | |
13 | g.32356451G>A | CA387743124 | BRCA2 | c.7459G>A (p.Ala2487Thr) c.7090G>A (p.Ala2364Thr) c.24G>A n.7459G>A c.7363G>A (p.Ala2455Thr) | ClinVar |
13 | g.32356451G>C | CA387743125 | BRCA2 | c.7459G>C (p.Ala2487Pro) c.7090G>C (p.Ala2364Pro) c.24G>C n.7459G>C c.7363G>C (p.Ala2455Pro) | |
13 | g.32356451G= | CA2082814135 | BRCA2 | c.7459G= (p.Ala2487=) c.7090G= (p.Ala2364=) c.24G= n.7459G= c.7363G= (p.Ala2455=) | |
13 | g.32356451G>T | CA387743127 | BRCA2 | c.7459G>T (p.Ala2487Ser) c.7090G>T (p.Ala2364Ser) c.24G>T n.7459G>T c.7363G>T (p.Ala2455Ser) | ClinVar dbSNP |
13 | g.32356452C>A | CA387743130 | BRCA2 | c.7460C>A (p.Ala2487Asp) c.7091C>A (p.Ala2364Asp) c.25C>A n.7460C>A c.7364C>A (p.Ala2455Asp) | dbSNP |
13 | g.32356452C>G | CA387743134 | BRCA2 | c.7460C>G (p.Ala2487Gly) c.7091C>G (p.Ala2364Gly) c.25C>G n.7460C>G c.7364C>G (p.Ala2455Gly) | dbSNP |
13 | g.32356452C>T | CA387743136 | BRCA2 | c.7460C>T (p.Ala2487Val) c.7091C>T (p.Ala2364Val) c.25C>T n.7460C>T c.7364C>T (p.Ala2455Val) | dbSNP |
13 | g.32356453C>A | CA483260362 | BRCA2 | c.7461C>A (p.Ala2487=) c.7092C>A (p.Ala2364=) c.26C>A n.7461C>A c.7365C>A (p.Ala2455=) | dbSNP COSMIC COSMIC |
13 | g.32356453C>G | CA483260363 | BRCA2 | c.7461C>G (p.Ala2487=) c.7092C>G (p.Ala2364=) c.26C>G n.7461C>G c.7365C>G (p.Ala2455=) | ClinVar dbSNP |
13 | g.32356453C>T | CA483260364 | BRCA2 | c.7461C>T (p.Ala2487=) c.7092C>T (p.Ala2364=) c.26C>T n.7461C>T c.7365C>T (p.Ala2455=) | dbSNP |
13 | g.32356454A= | CA2082814140 | BRCA2 | c.7462A= (p.Arg2488=) c.7093A= (p.Arg2365=) c.27A= n.7462A= c.7366A= (p.Arg2456=) | |
13 | g.32356454A>C | CA483260365 | BRCA2 | c.7462A>C (p.Arg2488=) c.7093A>C (p.Arg2365=) c.27A>C n.7462A>C c.7366A>C (p.Arg2456=) | gnomAD v4 |
13 | g.32356454A>G | CA6941102 | BRCA2 | c.7462A>G (p.Arg2488Gly) c.7093A>G (p.Arg2365Gly) c.27A>G n.7462A>G c.7366A>G (p.Arg2456Gly) | ClinVar dbSNP ExAC gnomAD v4 |
13 | g.32356454A>T | CA387743139 | BRCA2 | c.7462A>T (p.Arg2488Ter) c.7093A>T (p.Arg2365Ter) c.27A>T n.7462A>T c.7366A>T (p.Arg2456Ter) | dbSNP |
13 | g.32356455G>A | CA025097 | BRCA2 | c.7463G>A (p.Arg2488Lys) c.7094G>A (p.Arg2365Lys) c.28G>A n.7463G>A c.7367G>A (p.Arg2456Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32356455G>C | CA387743142 | BRCA2 | c.7463G>C (p.Arg2488Thr) c.7094G>C (p.Arg2365Thr) c.28G>C n.7463G>C c.7367G>C (p.Arg2456Thr) | ClinVar dbSNP COSMIC COSMIC |
13 | g.32356455G= | CA2082814150 | BRCA2 | c.7463G= (p.Arg2488=) c.7094G= (p.Arg2365=) c.28G= n.7463G= c.7367G= (p.Arg2456=) | |
13 | g.32356455G>T | CA387743145 | BRCA2 | c.7463G>T (p.Arg2488Ile) c.7094G>T (p.Arg2365Ile) c.28G>T n.7463G>T c.7367G>T (p.Arg2456Ile) | |
13 | g.32356455_32356456insTA | CA658823745 | BRCA2 | c.7463_7464insTA (p.Arg2488SerfsTer?) c.7094_7095insTA (p.Arg2365SerfsTer?) c.28_29insTA n.7463_7464insTA c.7367_7368insTA (p.Arg2456SerfsTer?) | ClinVar dbSNP |
13 | g.32356456A= | CA2082814166 | BRCA2 | c.7464A= (p.Arg2488=) c.7095A= (p.Arg2365=) c.29A= n.7464A= c.7368A= (p.Arg2456=) | |
13 | g.32356456A>C | CA025098 | BRCA2 | c.7464A>C (p.Arg2488Ser) c.7095A>C (p.Arg2365Ser) c.29A>C n.7464A>C c.7368A>C (p.Arg2456Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32356456A>G | CA483260366 | BRCA2 | c.7464A>G (p.Arg2488=) c.7095A>G (p.Arg2365=) c.29A>G n.7464A>G c.7368A>G (p.Arg2456=) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.32356456A>T | CA387743165 | BRCA2 | c.7464A>T (p.Arg2488Ser) c.7095A>T (p.Arg2365Ser) c.29A>T n.7464A>T c.7368A>T (p.Arg2456Ser) | |
13 | g.32356456_32356457insTA | CA10586575 | BRCA2 | c.7464_7465insTA (p.Asp2489Ter) c.7095_7096insTA (p.Asp2366Ter) c.29_30insTA n.7464_7465insTA c.7368_7369insTA (p.Asp2457Ter) | ClinVar dbSNP |
13 | g.32356457G>A | CA387743173 | BRCA2 | c.7465G>A (p.Asp2489Asn) c.7096G>A (p.Asp2366Asn) c.30G>A n.7465G>A c.7369G>A (p.Asp2457Asn) | ClinVar dbSNP |
13 | g.32356457G>C | CA387743172 | BRCA2 | c.7465G>C (p.Asp2489His) c.7096G>C (p.Asp2366His) c.30G>C n.7465G>C c.7369G>C (p.Asp2457His) | dbSNP |
13 | g.32356457G= | CA2082814181 | BRCA2 | c.7465G= (p.Asp2489=) c.7096G= (p.Asp2366=) c.30G= n.7465G= c.7369G= (p.Asp2457=) | |
13 | g.32356457G>T | CA387743174 | BRCA2 | c.7465G>T (p.Asp2489Tyr) c.7096G>T (p.Asp2366Tyr) c.30G>T n.7465G>T c.7369G>T (p.Asp2457Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356462_32356470del | CA2580614679 | BRCA2 | c.7470_7478del (p.Ile2490_Asp2492del) c.7101_7109del (p.Ile2367_Asp2369del) c.35_43del n.7470_7478del c.7374_7382del (p.Ile2458_Asp2460del) | ClinVar |
13 | g.32356458A= | CA2082814190 | BRCA2 | c.7466A= (p.Asp2489=) c.7097A= (p.Asp2366=) c.31A= n.7466A= c.7370A= (p.Asp2457=) | |
13 | g.32356458A>C | CA387743177 | BRCA2 | c.7466A>C (p.Asp2489Ala) c.7097A>C (p.Asp2366Ala) c.31A>C n.7466A>C c.7370A>C (p.Asp2457Ala) | |
13 | g.32356458A>G | CA025100 | BRCA2 | c.7466A>G (p.Asp2489Gly) c.7097A>G (p.Asp2366Gly) c.31A>G n.7466A>G c.7370A>G (p.Asp2457Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356458A>T | CA387743183 | BRCA2 | c.7466A>T (p.Asp2489Val) c.7097A>T (p.Asp2366Val) c.31A>T n.7466A>T c.7370A>T (p.Asp2457Val) | dbSNP |
13 | g.32356459T>A | CA387743188 | BRCA2 | c.7467T>A (p.Asp2489Glu) c.7098T>A (p.Asp2366Glu) c.32T>A n.7467T>A c.7371T>A (p.Asp2457Glu) | dbSNP |
13 | g.32356459T>C | CA483260367 | BRCA2 | c.7467T>C (p.Asp2489=) c.7098T>C (p.Asp2366=) c.32T>C n.7467T>C c.7371T>C (p.Asp2457=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32356459T>G | CA387743191 | BRCA2 | c.7467T>G (p.Asp2489Glu) c.7098T>G (p.Asp2366Glu) c.32T>G n.7467T>G c.7371T>G (p.Asp2457Glu) | ClinVar dbSNP |
13 | g.32356459T= | CA2082814204 | BRCA2 | c.7467T= (p.Asp2489=) c.7098T= (p.Asp2366=) c.32T= n.7467T= c.7371T= (p.Asp2457=) | |
13 | g.32356459dup | CA025102 | BRCA2 | c.7467dup (p.Ile2490TyrfsTer7) c.7098dup (p.Ile2367TyrfsTer7) c.32dup n.7467dup c.7371dup (p.Ile2458TyrfsTer7) | ClinVar dbSNP |
13 | g.32356460A= | CA2082814213 | BRCA2 | c.7468A= (p.Ile2490=) c.7099A= (p.Ile2367=) c.33A= n.7468A= c.7372A= (p.Ile2458=) | |
13 | g.32356460A>C | CA387743196 | BRCA2 | c.7468A>C (p.Ile2490Leu) c.7099A>C (p.Ile2367Leu) c.33A>C n.7468A>C c.7372A>C (p.Ile2458Leu) | |
13 | g.32356460A>G | CA387743199 | BRCA2 | c.7468A>G (p.Ile2490Val) c.7099A>G (p.Ile2367Val) c.33A>G n.7468A>G c.7372A>G (p.Ile2458Val) | ClinVar dbSNP |
13 | g.32356460A>T | CA387743200 | BRCA2 | c.7468A>T (p.Ile2490Leu) c.7099A>T (p.Ile2367Leu) c.33A>T n.7468A>T c.7372A>T (p.Ile2458Leu) | dbSNP |
13 | g.32356460_32356461delinsAT | CA2082814212 | BRCA2 | c.7468_7469delinsAT (p.Ile2490=) c.7099_7100delinsAT (p.Ile2367=) c.33_34delinsAT n.7468_7469delinsAT c.7372_7373delinsAT (p.Ile2458=) | |
13 | g.32356461del | CA10589429 | BRCA2 | c.7469del (p.Ile2490AsnfsTer?) c.7100del (p.Ile2367AsnfsTer?) c.34del n.7469del c.7373del (p.Ile2458AsnfsTer?) | ClinVar dbSNP |
13 | g.32356461T>A | CA387743202 | BRCA2 | c.7469T>A (p.Ile2490Lys) c.7100T>A (p.Ile2367Lys) c.34T>A n.7469T>A c.7373T>A (p.Ile2458Lys) | dbSNP |
13 | g.32356461T>C | CA025105 | BRCA2 | c.7469T>C (p.Ile2490Thr) c.7100T>C (p.Ile2367Thr) c.34T>C n.7469T>C c.7373T>C (p.Ile2458Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356461T>G | CA387743205 | BRCA2 | c.7469T>G (p.Ile2490Arg) c.7100T>G (p.Ile2367Arg) c.34T>G n.7469T>G c.7373T>G (p.Ile2458Arg) | |
13 | g.32356461T= | CA2082814227 | BRCA2 | c.7469T= (p.Ile2490=) c.7100T= (p.Ile2367=) c.34T= n.7469T= c.7373T= (p.Ile2458=) | |
13 | g.32356461dup | CA025104 | BRCA2 | c.7469dup (p.Gln2491ThrfsTer6) c.7100dup (p.Gln2368ThrfsTer6) c.34dup n.7469dup c.7373dup (p.Gln2459ThrfsTer6) | ClinVar dbSNP |
13 | g.32356462A= | CA2082814239 | BRCA2 | c.7470A= (p.Ile2490=) c.7101A= (p.Ile2367=) c.35A= n.7470A= c.7374A= (p.Ile2458=) | |
13 | g.32356462A>C | CA483260368 | BRCA2 | c.7470A>C (p.Ile2490=) c.7101A>C (p.Ile2367=) c.35A>C n.7470A>C c.7374A>C (p.Ile2458=) | |
13 | g.32356462A>G | CA16606809 | BRCA2 | c.7470A>G (p.Ile2490Met) c.7101A>G (p.Ile2367Met) c.35A>G n.7470A>G c.7374A>G (p.Ile2458Met) | ClinVar dbSNP gnomAD v4 |
13 | g.32356462A>T | CA483260369 | BRCA2 | c.7470A>T (p.Ile2490=) c.7101A>T (p.Ile2367=) c.35A>T n.7470A>T c.7374A>T (p.Ile2458=) | dbSNP |
13 | g.32356462_32356463delinsAC | CA2082814238 | BRCA2 | c.7470_7471delinsAC (p.Ile2490=) c.7101_7102delinsAC (p.Ile2367=) c.35_36delinsAC n.7470_7471delinsAC c.7374_7375delinsAC (p.Ile2458=) | |
13 | g.32356463del | CA10586576 | BRCA2 | c.7471del (p.Gln2491ArgfsTer?) c.7102del (p.Gln2368ArgfsTer?) c.36del n.7471del c.7375del (p.Gln2459ArgfsTer?) | ClinVar dbSNP |
13 | g.32356463C>A | CA387743221 | BRCA2 | c.7471C>A (p.Gln2491Lys) c.7102C>A (p.Gln2368Lys) c.36C>A n.7471C>A c.7375C>A (p.Gln2459Lys) | dbSNP |
13 | g.32356463C= | CA2082814252 | BRCA2 | c.7471C= (p.Gln2491=) c.7102C= (p.Gln2368=) c.36C= n.7471C= c.7375C= (p.Gln2459=) | |
13 | g.32356463C>G | CA387743224 | BRCA2 | c.7471C>G (p.Gln2491Glu) c.7102C>G (p.Gln2368Glu) c.36C>G n.7471C>G c.7375C>G (p.Gln2459Glu) | dbSNP |
13 | g.32356463C>T | CA025106 | BRCA2 | c.7471C>T (p.Gln2491Ter) c.7102C>T (p.Gln2368Ter) c.36C>T n.7471C>T c.7375C>T (p.Gln2459Ter) | ClinVar dbSNP gnomAD v4 |
13 | g.32356464A= | CA2082814263 | BRCA2 | c.7472A= (p.Gln2491=) c.7103A= (p.Gln2368=) c.37A= n.7472A= c.7376A= (p.Gln2459=) | |
13 | g.32356464A>C | CA387743228 | BRCA2 | c.7472A>C (p.Gln2491Pro) c.7103A>C (p.Gln2368Pro) c.37A>C n.7472A>C c.7376A>C (p.Gln2459Pro) | |
13 | g.32356464A>G | CA247469683 | BRCA2 | c.7472A>G (p.Gln2491Arg) c.7103A>G (p.Gln2368Arg) c.37A>G n.7472A>G c.7376A>G (p.Gln2459Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32356464A>T | CA387743232 | BRCA2 | c.7472A>T (p.Gln2491Leu) c.7103A>T (p.Gln2368Leu) c.37A>T n.7472A>T c.7376A>T (p.Gln2459Leu) | ClinVar dbSNP |
13 | g.32356465G>A | CA483260370 | BRCA2 | c.7473G>A (p.Gln2491=) c.7104G>A (p.Gln2368=) c.38G>A n.7473G>A c.7377G>A (p.Gln2459=) | ClinVar dbSNP gnomAD v4 |
13 | g.32356465G>C | CA387743234 | BRCA2 | c.7473G>C (p.Gln2491His) c.7104G>C (p.Gln2368His) c.38G>C n.7473G>C c.7377G>C (p.Gln2459His) | ClinVar dbSNP |
13 | g.32356465G>T | CA387743236 | BRCA2 | c.7473G>T (p.Gln2491His) c.7104G>T (p.Gln2368His) c.38G>T n.7473G>T c.7377G>T (p.Gln2459His) | dbSNP |
13 | g.32356465_32356467delinsGGA | CA2082814270 | BRCA2 | c.7473_7475delinsGGA (p.Gln2491=) c.7104_7106delinsGGA (p.Gln2368=) c.38_40delinsGGA n.7473_7475delinsGGA c.7377_7379delinsGGA (p.Gln2459=) | |
13 | g.32356466G>A | CA387743238 | BRCA2 | c.7474G>A (p.Asp2492Asn) c.7105G>A (p.Asp2369Asn) c.39G>A n.7474G>A c.7378G>A (p.Asp2460Asn) | dbSNP |
13 | g.32356466G>C | CA387743240 | BRCA2 | c.7474G>C (p.Asp2492His) c.7105G>C (p.Asp2369His) c.39G>C n.7474G>C c.7378G>C (p.Asp2460His) | dbSNP |
13 | g.32356466G>T | CA387743245 | BRCA2 | c.7474G>T (p.Asp2492Tyr) c.7105G>T (p.Asp2369Tyr) c.39G>T n.7474G>T c.7378G>T (p.Asp2460Tyr) | |
13 | g.32356466_32356467del | CA025107 | BRCA2 | c.7474_7475del (p.Asp2492TyrfsTer4) c.7105_7106del (p.Asp2369TyrfsTer4) c.39_40del n.7474_7475del c.7378_7379del (p.Asp2460TyrfsTer4) | ClinVar dbSNP |
13 | g.32356467A>C | CA387743249 | BRCA2 | c.7475A>C (p.Asp2492Ala) c.7106A>C (p.Asp2369Ala) c.40A>C n.7475A>C c.7379A>C (p.Asp2460Ala) | |
13 | g.32356467A>G | CA387743250 | BRCA2 | c.7475A>G (p.Asp2492Gly) c.7106A>G (p.Asp2369Gly) c.40A>G n.7475A>G c.7379A>G (p.Asp2460Gly) | |
13 | g.32356467A>T | CA387743248 | BRCA2 | c.7475A>T (p.Asp2492Val) c.7106A>T (p.Asp2369Val) c.40A>T n.7475A>T c.7379A>T (p.Asp2460Val) | |
13 | g.32356468T>A | CA387743251 | BRCA2 | c.7476T>A (p.Asp2492Glu) c.7107T>A (p.Asp2369Glu) c.41T>A n.7476T>A c.7380T>A (p.Asp2460Glu) | dbSNP |
13 | g.32356468T>C | CA483260371 | BRCA2 | c.7476T>C (p.Asp2492=) c.7107T>C (p.Asp2369=) c.41T>C n.7476T>C c.7380T>C (p.Asp2460=) | ClinVar gnomAD v4 |
13 | g.32356468T>G | CA387743253 | BRCA2 | c.7476T>G (p.Asp2492Glu) c.7107T>G (p.Asp2369Glu) c.41T>G n.7476T>G c.7380T>G (p.Asp2460Glu) | dbSNP |
13 | g.32356469A= | CA2082814287 | BRCA2 | c.7477A= (p.Met2493=) c.7108A= (p.Met2370=) c.42A= n.7477A= c.7381A= (p.Met2461=) | |
13 | g.32356469A>C | CA387743256 | BRCA2 | c.7477A>C (p.Met2493Leu) c.7108A>C (p.Met2370Leu) c.42A>C n.7477A>C c.7381A>C (p.Met2461Leu) | |
13 | g.32356469A>G | CA16619763 | BRCA2 | c.7477A>G (p.Met2493Val) c.7108A>G (p.Met2370Val) c.42A>G n.7477A>G c.7381A>G (p.Met2461Val) | ClinVar dbSNP |
13 | g.32356469A>T | CA387743260 | BRCA2 | c.7477A>T (p.Met2493Leu) c.7108A>T (p.Met2370Leu) c.42A>T n.7477A>T c.7381A>T (p.Met2461Leu) | ClinVar dbSNP gnomAD v4 |
13 | g.32356470T>A | CA387743264 | BRCA2 | c.7478T>A (p.Met2493Lys) c.7109T>A (p.Met2370Lys) c.43T>A n.7478T>A c.7382T>A (p.Met2461Lys) | dbSNP |
13 | g.32356470T>C | CA336705 | BRCA2 | c.7478T>C (p.Met2493Thr) c.7109T>C (p.Met2370Thr) c.43T>C n.7478T>C c.7382T>C (p.Met2461Thr) | ClinVar dbSNP gnomAD v4 |
13 | g.32356470T>G | CA10583131 | BRCA2 | c.7478T>G (p.Met2493Arg) c.7109T>G (p.Met2370Arg) c.43T>G n.7478T>G c.7382T>G (p.Met2461Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356470T= | CA2082814304 | BRCA2 | c.7478T= (p.Met2493=) c.7109T= (p.Met2370=) c.43T= n.7478T= c.7382T= (p.Met2461=) | |
13 | g.32356471G>A | CA10577491 | BRCA2 | c.7479G>A (p.Met2493Ile) c.7110G>A (p.Met2370Ile) c.44G>A n.7479G>A c.7383G>A (p.Met2461Ile) | ClinVar dbSNP |
13 | g.32356471G>C | CA387743268 | BRCA2 | c.7479G>C (p.Met2493Ile) c.7110G>C (p.Met2370Ile) c.44G>C n.7479G>C c.7383G>C (p.Met2461Ile) | dbSNP |
13 | g.32356471G= | CA2082814315 | BRCA2 | c.7479G= (p.Met2493=) c.7110G= (p.Met2370=) c.44G= n.7479G= c.7383G= (p.Met2461=) | |
13 | g.32356471G>T | CA387743271 | BRCA2 | c.7479G>T (p.Met2493Ile) c.7110G>T (p.Met2370Ile) c.44G>T n.7479G>T c.7383G>T (p.Met2461Ile) | |
13 | g.32356472C>A | CA6941103 | BRCA2 | c.7480C>A (p.Arg2494=) c.7111C>A (p.Arg2371=) c.45C>A n.7480C>A c.7384C>A (p.Arg2462=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32356472C= | CA2082814341 | BRCA2 | c.7480C= (p.Arg2494=) c.7111C= (p.Arg2371=) c.45C= n.7480C= c.7384C= (p.Arg2462=) | |
13 | g.32356472C>G | CA387743274 | BRCA2 | c.7480C>G (p.Arg2494Gly) c.7111C>G (p.Arg2371Gly) c.45C>G n.7480C>G c.7384C>G (p.Arg2462Gly) | |
13 | g.32356472C>T | CA025108 | BRCA2 | c.7480C>T (p.Arg2494Ter) c.7111C>T (p.Arg2371Ter) c.45C>T n.7480C>T c.7384C>T (p.Arg2462Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356473G>A | CA025110 | BRCA2 | c.7481G>A (p.Arg2494Gln) c.7112G>A (p.Arg2371Gln) c.46G>A n.7481G>A c.7385G>A (p.Arg2462Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
13 | g.32356473G>C | CA387743276 | BRCA2 | c.7481G>C (p.Arg2494Pro) c.7112G>C (p.Arg2371Pro) c.46G>C n.7481G>C c.7385G>C (p.Arg2462Pro) | dbSNP |
13 | g.32356473G= | CA2082814345 | BRCA2 | c.7481G= (p.Arg2494=) c.7112G= (p.Arg2371=) c.46G= n.7481G= c.7385G= (p.Arg2462=) | |
13 | g.32356473G>T | CA387743275 | BRCA2 | c.7481G>T (p.Arg2494Leu) c.7112G>T (p.Arg2371Leu) c.46G>T n.7481G>T c.7385G>T (p.Arg2462Leu) | dbSNP |
13 | g.32356474A= | CA2082814350 | BRCA2 | c.7482A= (p.Arg2494=) c.7113A= (p.Arg2371=) c.47A= n.7482A= c.7386A= (p.Arg2462=) | |
13 | g.32356474A>C | CA483260372 | BRCA2 | c.7482A>C (p.Arg2494=) c.7113A>C (p.Arg2371=) c.47A>C n.7482A>C c.7386A>C (p.Arg2462=) | |
13 | g.32356474A>G | CA483260373 | BRCA2 | c.7482A>G (p.Arg2494=) c.7113A>G (p.Arg2371=) c.47A>G n.7482A>G c.7386A>G (p.Arg2462=) | |
13 | g.32356474A>T | CA483260374 | BRCA2 | c.7482A>T (p.Arg2494=) c.7113A>T (p.Arg2371=) c.47A>T n.7482A>T c.7386A>T (p.Arg2462=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32356474_32356475insCC | CA2499222289 | BRCA2 | c.7482_7483insCC (p.Ile2495ProfsTer30) c.7113_7114insCC (p.Ile2372ProfsTer30) c.47_48insCC n.7482_7483insCC c.7386_7387insCC (p.Ile2463ProfsTer30) | |
13 | g.32356475A= | CA2082814357 | BRCA2 | c.7483A= (p.Ile2495=) c.7114A= (p.Ile2372=) c.48A= n.7483A= c.7387A= (p.Ile2463=) | |
13 | g.32356475A>C | CA387743279 | BRCA2 | c.7483A>C (p.Ile2495Leu) c.7114A>C (p.Ile2372Leu) c.48A>C n.7483A>C c.7387A>C (p.Ile2463Leu) | dbSNP |
13 | g.32356475A>G | CA247469723 | BRCA2 | c.7483A>G (p.Ile2495Val) c.7114A>G (p.Ile2372Val) c.48A>G n.7483A>G c.7387A>G (p.Ile2463Val) | dbSNP |
13 | g.32356475A>T | CA387743300 | BRCA2 | c.7483A>T (p.Ile2495Phe) c.7114A>T (p.Ile2372Phe) c.48A>T n.7483A>T c.7387A>T (p.Ile2463Phe) | dbSNP |
13 | g.32356475_32356476delinsAT | CA2082814354 | BRCA2 | c.7483_7484delinsAT (p.Ile2495=) c.7114_7115delinsAT (p.Ile2372=) c.48_49delinsAT n.7483_7484delinsAT c.7387_7388delinsAT (p.Ile2463=) | |
13 | g.32356476T>A | CA387743306 | BRCA2 | c.7484T>A (p.Ile2495Asn) c.7115T>A (p.Ile2372Asn) c.49T>A n.7484T>A c.7388T>A (p.Ile2463Asn) | dbSNP |
13 | g.32356476T>C | CA025112 | BRCA2 | c.7484T>C (p.Ile2495Thr) c.7115T>C (p.Ile2372Thr) c.49T>C n.7484T>C c.7388T>C (p.Ile2463Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356476T>G | CA387743314 | BRCA2 | c.7484T>G (p.Ile2495Ser) c.7115T>G (p.Ile2372Ser) c.49T>G n.7484T>G c.7388T>G (p.Ile2463Ser) | dbSNP |
13 | g.32356476T= | CA2082814366 | BRCA2 | c.7484T= (p.Ile2495=) c.7115T= (p.Ile2372=) c.49T= n.7484T= c.7388T= (p.Ile2463=) | |
13 | g.32356477dup | CA10589430 | BRCA2 | c.7485dup (p.Lys2496Ter) c.7116dup (p.Lys2373Ter) c.50dup n.7485dup c.7389dup (p.Lys2464Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32356477del | CA10586577 | BRCA2 | c.7485del (p.Lys2496ArgfsTer28) c.7116del (p.Lys2373ArgfsTer28) c.50del n.7485del c.7389del (p.Lys2464ArgfsTer28) | ClinVar dbSNP |
13 | g.32356476_32356477insA | CA658823746 | BRCA2 | c.7484_7485insA (p.Lys2496Ter) c.7115_7116insA (p.Lys2373Ter) c.49_50insA n.7484_7485insA c.7388_7389insA (p.Lys2464Ter) | ClinVar dbSNP |
13 | g.32356477T>A | CA483260375 | BRCA2 | c.7485T>A (p.Ile2495=) c.7116T>A (p.Ile2372=) c.50T>A n.7485T>A c.7389T>A (p.Ile2463=) | |
13 | g.32356477T>C | CA483260376 | BRCA2 | c.7485T>C (p.Ile2495=) c.7116T>C (p.Ile2372=) c.50T>C n.7485T>C c.7389T>C (p.Ile2463=) | |
13 | g.32356477T>G | CA387743317 | BRCA2 | c.7485T>G (p.Ile2495Met) c.7116T>G (p.Ile2372Met) c.50T>G n.7485T>G c.7389T>G (p.Ile2463Met) | ClinVar dbSNP |
13 | g.32356477T= | CA2082814381 | BRCA2 | c.7485T= (p.Ile2495=) c.7116T= (p.Ile2372=) c.50T= n.7485T= c.7389T= (p.Ile2463=) | |
13 | g.32356477_32356480delinsTAAG | CA2082814379 | BRCA2 | c.7485_7488delinsTAAG (p.Ile2495=) c.7116_7119delinsTAAG (p.Ile2372=) c.50_53delinsTAAG n.7485_7488delinsTAAG c.7389_7392delinsTAAG (p.Ile2463=) | |
13 | g.32356478A= | CA2082814390 | BRCA2 | c.7486A= (p.Lys2496=) c.7117A= (p.Lys2373=) c.51A= n.7486A= c.7390A= (p.Lys2464=) | |
13 | g.32356478A>C | CA387743320 | BRCA2 | c.7486A>C (p.Lys2496Gln) c.7117A>C (p.Lys2373Gln) c.51A>C n.7486A>C c.7390A>C (p.Lys2464Gln) | |
13 | g.32356478A>G | CA387743323 | BRCA2 | c.7486A>G (p.Lys2496Glu) c.7117A>G (p.Lys2373Glu) c.51A>G n.7486A>G c.7390A>G (p.Lys2464Glu) | |
13 | g.32356478A>T | CA387743332 | BRCA2 | c.7486A>T (p.Lys2496Ter) c.7117A>T (p.Lys2373Ter) c.51A>T n.7486A>T c.7390A>T (p.Lys2464Ter) | dbSNP |
13 | g.32356479dup | CA645372939 | BRCA2 | c.7487dup (p.Lys2497GlufsTer?) c.7118dup (p.Lys2374GlufsTer?) c.52dup n.7487dup c.7391dup (p.Lys2465GlufsTer?) | ClinVar dbSNP |
13 | g.32356483_32356485del | CA025115 | BRCA2 | c.7491_7493del (p.Lys2498del) c.7122_7124del (p.Lys2375del) c.56_58del n.7491_7493del c.7395_7397del (p.Lys2466del) | ClinVar dbSNP gnomAD v4 |
13 | g.32356478_32356499dup | CA2580087467 | BRCA2 | c.7486_7507dup (p.Val2503GlufsTer?) c.7117_7138dup (p.Val2380GlufsTer?) c.51_72dup n.7486_7507dup c.7390_7411dup (p.Val2471GlufsTer?) | ClinVar |
13 | g.32356478_32356479insT | CA10586578 | BRCA2 | c.7486_7487insT (p.Lys2496IlefsTer?) c.7117_7118insT (p.Lys2373IlefsTer?) c.51_52insT n.7486_7487insT c.7390_7391insT (p.Lys2464IlefsTer?) | ClinVar dbSNP |
13 | g.32356479A= | CA2082814397 | BRCA2 | c.7487A= (p.Lys2496=) c.7118A= (p.Lys2373=) c.52A= n.7487A= c.7391A= (p.Lys2464=) | |
13 | g.32356479A>C | CA025113 | BRCA2 | c.7487A>C (p.Lys2496Thr) c.7118A>C (p.Lys2373Thr) c.52A>C n.7487A>C c.7391A>C (p.Lys2464Thr) | ClinVar dbSNP |
13 | g.32356479A>G | CA387743336 | BRCA2 | c.7487A>G (p.Lys2496Arg) c.7118A>G (p.Lys2373Arg) c.52A>G n.7487A>G c.7391A>G (p.Lys2464Arg) | |
13 | g.32356479A>T | CA387743335 | BRCA2 | c.7487A>T (p.Lys2496Met) c.7118A>T (p.Lys2373Met) c.52A>T n.7487A>T c.7391A>T (p.Lys2464Met) | dbSNP |
13 | g.32356480del | CA2499222290 | BRCA2 | c.7488del (p.Lys2497ArgfsTer27) c.7119del (p.Lys2374ArgfsTer27) c.53del n.7488del c.7392del (p.Lys2465ArgfsTer27) | ClinVar dbSNP |
13 | g.32356480G>A | CA483260377 | BRCA2 | c.7488G>A (p.Lys2496=) c.7119G>A (p.Lys2373=) c.53G>A n.7488G>A c.7392G>A (p.Lys2464=) | dbSNP |
13 | g.32356480G>C | CA6941104 | BRCA2 | c.7488G>C (p.Lys2496Asn) c.7119G>C (p.Lys2373Asn) c.53G>C n.7488G>C c.7392G>C (p.Lys2464Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356480G= | CA2082814412 | BRCA2 | c.7488G= (p.Lys2496=) c.7119G= (p.Lys2373=) c.53G= n.7488G= c.7392G= (p.Lys2464=) | |
13 | g.32356480G>T | CA387743340 | BRCA2 | c.7488G>T (p.Lys2496Asn) c.7119G>T (p.Lys2373Asn) c.53G>T n.7488G>T c.7392G>T (p.Lys2464Asn) | dbSNP |
13 | g.32356481A>C | CA387743341 | BRCA2 | c.7489A>C (p.Lys2497Gln) c.7120A>C (p.Lys2374Gln) c.54A>C n.7489A>C c.7393A>C (p.Lys2465Gln) | dbSNP |
13 | g.32356481A>G | CA387743342 | BRCA2 | c.7489A>G (p.Lys2497Glu) c.7120A>G (p.Lys2374Glu) c.54A>G n.7489A>G c.7393A>G (p.Lys2465Glu) | |
13 | g.32356481A>T | CA387743343 | BRCA2 | c.7489A>T (p.Lys2497Ter) c.7120A>T (p.Lys2374Ter) c.54A>T n.7489A>T c.7393A>T (p.Lys2465Ter) | |
13 | g.32356482dup | CA919242751 | BRCA2 | c.7490dup (p.Lys2498GlufsTer?) c.7121dup (p.Lys2375GlufsTer?) c.55dup n.7490dup c.7394dup (p.Lys2466GlufsTer?) | dbSNP |
13 | g.32356483_32356486del | CA2622571560 | BRCA2 | c.7491_7494del (p.Lys2497AsnfsTer26) c.7122_7125del (p.Lys2374AsnfsTer26) c.56_59del n.7491_7494del c.7395_7398del (p.Lys2465AsnfsTer26) | gnomAD v4 |
13 | g.32356482A= | CA2082814423 | BRCA2 | c.7490A= (p.Lys2497=) c.7121A= (p.Lys2374=) c.55A= n.7490A= c.7394A= (p.Lys2465=) | |
13 | g.32356482A>C | CA387743344 | BRCA2 | c.7490A>C (p.Lys2497Thr) c.7121A>C (p.Lys2374Thr) c.55A>C n.7490A>C c.7394A>C (p.Lys2465Thr) | ClinVar dbSNP |
13 | g.32356482A>G | CA387743345 | BRCA2 | c.7490A>G (p.Lys2497Arg) c.7121A>G (p.Lys2374Arg) c.55A>G n.7490A>G c.7394A>G (p.Lys2465Arg) | ClinVar dbSNP |
13 | g.32356482A>T | CA387743347 | BRCA2 | c.7490A>T (p.Lys2497Met) c.7121A>T (p.Lys2374Met) c.55A>T n.7490A>T c.7394A>T (p.Lys2465Met) | |
13 | g.32356483G>A | CA025116 | BRCA2 | c.7491G>A (p.Lys2497=) c.7122G>A (p.Lys2374=) c.56G>A n.7491G>A c.7395G>A (p.Lys2465=) | ClinVar dbSNP gnomAD v4 |
13 | g.32356483G>C | CA387743353 | BRCA2 | c.7491G>C (p.Lys2497Asn) c.7122G>C (p.Lys2374Asn) c.56G>C n.7491G>C c.7395G>C (p.Lys2465Asn) | dbSNP |
13 | g.32356483G= | CA2082814433 | BRCA2 | c.7491G= (p.Lys2497=) c.7122G= (p.Lys2374=) c.56G= n.7491G= c.7395G= (p.Lys2465=) | |
13 | g.32356483G>T | CA387743351 | BRCA2 | c.7491G>T (p.Lys2497Asn) c.7122G>T (p.Lys2374Asn) c.56G>T n.7491G>T c.7395G>T (p.Lys2465Asn) | |
13 | g.32356484A>C | CA387743359 | BRCA2 | c.7492A>C (p.Lys2498Gln) c.7123A>C (p.Lys2375Gln) c.57A>C n.7492A>C c.7396A>C (p.Lys2466Gln) | |
13 | g.32356484A>G | CA387743360 | BRCA2 | c.7492A>G (p.Lys2498Glu) c.7123A>G (p.Lys2375Glu) c.57A>G n.7492A>G c.7396A>G (p.Lys2466Glu) | |
13 | g.32356484A>T | CA387743363 | BRCA2 | c.7492A>T (p.Lys2498Ter) c.7123A>T (p.Lys2375Ter) c.57A>T n.7492A>T c.7396A>T (p.Lys2466Ter) | ClinVar |
13 | g.32356485A= | CA2082814440 | BRCA2 | c.7493A= (p.Lys2498=) c.7124A= (p.Lys2375=) c.58A= n.7493A= c.7397A= (p.Lys2466=) | |
13 | g.32356485A>C | CA025117 | BRCA2 | c.7493A>C (p.Lys2498Thr) c.7124A>C (p.Lys2375Thr) c.58A>C n.7493A>C c.7397A>C (p.Lys2466Thr) | ClinVar dbSNP gnomAD v4 |
13 | g.32356485A>G | CA387743368 | BRCA2 | c.7493A>G (p.Lys2498Arg) c.7124A>G (p.Lys2375Arg) c.58A>G n.7493A>G c.7397A>G (p.Lys2466Arg) | dbSNP |
13 | g.32356485A>T | CA387743366 | BRCA2 | c.7493A>T (p.Lys2498Ile) c.7124A>T (p.Lys2375Ile) c.58A>T n.7493A>T c.7397A>T (p.Lys2466Ile) | |
13 | g.32356486A= | CA2082814454 | BRCA2 | c.7494A= (p.Lys2498=) c.7125A= (p.Lys2375=) c.59A= n.7494A= c.7398A= (p.Lys2466=) | |
13 | g.32356486A>C | CA387743370 | BRCA2 | c.7494A>C (p.Lys2498Asn) c.7125A>C (p.Lys2375Asn) c.59A>C n.7494A>C c.7398A>C (p.Lys2466Asn) | |
13 | g.32356486A>G | CA483260378 | BRCA2 | c.7494A>G (p.Lys2498=) c.7125A>G (p.Lys2375=) c.59A>G n.7494A>G c.7398A>G (p.Lys2466=) | ClinVar dbSNP |
13 | g.32356486A>T | CA387743375 | BRCA2 | c.7494A>T (p.Lys2498Asn) c.7125A>T (p.Lys2375Asn) c.59A>T n.7494A>T c.7398A>T (p.Lys2466Asn) | dbSNP |
13 | g.32356487_32356488del | CA2697551777 | BRCA2 | c.7495_7496del (p.Gln2499LysfsTer?) c.7126_7127del (p.Gln2376LysfsTer?) c.60_61del n.7495_7496del c.7399_7400del (p.Gln2467LysfsTer?) | ClinVar |
13 | g.32356487del | CA2499222291 | BRCA2 | c.7495del (p.Gln2499LysfsTer25) c.7126del (p.Gln2376LysfsTer25) c.60del n.7495del c.7399del (p.Gln2467LysfsTer25) | ClinVar dbSNP |
13 | g.32356487C>A | CA387743376 | BRCA2 | c.7495C>A (p.Gln2499Lys) c.7126C>A (p.Gln2376Lys) c.60C>A n.7495C>A c.7399C>A (p.Gln2467Lys) | gnomAD v4 |
13 | g.32356487C= | CA2082814467 | BRCA2 | c.7495C= (p.Gln2499=) c.7126C= (p.Gln2376=) c.60C= n.7495C= c.7399C= (p.Gln2467=) | |
13 | g.32356487C>G | CA10579739 | BRCA2 | c.7495C>G (p.Gln2499Glu) c.7126C>G (p.Gln2376Glu) c.60C>G n.7495C>G c.7399C>G (p.Gln2467Glu) | ClinVar dbSNP gnomAD v4 |
13 | g.32356487C>T | CA10589431 | BRCA2 | c.7495C>T (p.Gln2499Ter) c.7126C>T (p.Gln2376Ter) c.60C>T n.7495C>T c.7399C>T (p.Gln2467Ter) | ClinVar dbSNP |
13 | g.32356487_32356488delinsCA | CA2082814464 | BRCA2 | c.7495_7496delinsCA (p.Gln2499=) c.7126_7127delinsCA (p.Gln2376=) c.60_61delinsCA n.7495_7496delinsCA c.7399_7400delinsCA (p.Gln2467=) | |
13 | g.32356488A>C | CA387743382 | BRCA2 | c.7496A>C (p.Gln2499Pro) c.7127A>C (p.Gln2376Pro) c.61A>C n.7496A>C c.7400A>C (p.Gln2467Pro) | |
13 | g.32356488A>G | CA387743383 | BRCA2 | c.7496A>G (p.Gln2499Arg) c.7127A>G (p.Gln2376Arg) c.61A>G n.7496A>G c.7400A>G (p.Gln2467Arg) | |
13 | g.32356488A>T | CA387743384 | BRCA2 | c.7496A>T (p.Gln2499Leu) c.7127A>T (p.Gln2376Leu) c.61A>T n.7496A>T c.7400A>T (p.Gln2467Leu) | dbSNP |
13 | g.32356490del | CA919242752 | BRCA2 | c.7498del (p.Arg2500GlyfsTer24) c.7129del (p.Arg2377GlyfsTer24) c.63del n.7498del c.7402del (p.Arg2468GlyfsTer24) | dbSNP |
13 | g.32356489A= | CA2082814478 | BRCA2 | c.7497A= (p.Gln2499=) c.7128A= (p.Gln2376=) c.62A= n.7497A= c.7401A= (p.Gln2467=) | |
13 | g.32356489A>C | CA387743386 | BRCA2 | c.7497A>C (p.Gln2499His) c.7128A>C (p.Gln2376His) c.62A>C n.7497A>C c.7401A>C (p.Gln2467His) | |
13 | g.32356489A>G | CA483260379 | BRCA2 | c.7497A>G (p.Gln2499=) c.7128A>G (p.Gln2376=) c.62A>G n.7497A>G c.7401A>G (p.Gln2467=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356489A>T | CA387743387 | BRCA2 | c.7497A>T (p.Gln2499His) c.7128A>T (p.Gln2376His) c.62A>T n.7497A>T c.7401A>T (p.Gln2467His) | dbSNP |
13 | g.32356490A>C | CA483260380 | BRCA2 | c.7498A>C (p.Arg2500=) c.7129A>C (p.Arg2377=) c.63A>C n.7498A>C c.7402A>C (p.Arg2468=) | |
13 | g.32356490A>G | CA387743389 | BRCA2 | c.7498A>G (p.Arg2500Gly) c.7129A>G (p.Arg2377Gly) c.63A>G n.7498A>G c.7402A>G (p.Arg2468Gly) | dbSNP |
13 | g.32356490A>T | CA387743391 | BRCA2 | c.7498A>T (p.Arg2500Trp) c.7129A>T (p.Arg2377Trp) c.63A>T n.7498A>T c.7402A>T (p.Arg2468Trp) | dbSNP |
13 | g.32356490_32356491delinsAG | CA2082814482 | BRCA2 | c.7498_7499delinsAG (p.Arg2500=) c.7129_7130delinsAG (p.Arg2377=) c.63_64delinsAG n.7498_7499delinsAG c.7402_7403delinsAG (p.Arg2468=) | |
13 | g.32356491G>A | CA025118 | BRCA2 | c.7499G>A (p.Arg2500Lys) c.7130G>A (p.Arg2377Lys) c.64G>A n.7499G>A c.7403G>A (p.Arg2468Lys) | ClinVar dbSNP gnomAD v4 |
13 | g.32356491G>C | CA025119 | BRCA2 | c.7499G>C (p.Arg2500Thr) c.7130G>C (p.Arg2377Thr) c.64G>C n.7499G>C c.7403G>C (p.Arg2468Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32356491G= | CA2082814490 | BRCA2 | c.7499G= (p.Arg2500=) c.7130G= (p.Arg2377=) c.64G= n.7499G= c.7403G= (p.Arg2468=) | |
13 | g.32356491G>T | CA387743393 | BRCA2 | c.7499G>T (p.Arg2500Met) c.7130G>T (p.Arg2377Met) c.64G>T n.7499G>T c.7403G>T (p.Arg2468Met) | dbSNP |
13 | g.32356492del | CA913188525 | BRCA2 | c.7500del (p.Arg2500SerfsTer24) c.7131del (p.Arg2377SerfsTer24) c.65del n.7500del c.7404del (p.Arg2468SerfsTer24) | ClinVar dbSNP |
13 | g.32356492G>A | CA483260381 | BRCA2 | c.7500G>A (p.Arg2500=) c.7131G>A (p.Arg2377=) c.65G>A n.7500G>A c.7404G>A (p.Arg2468=) | ClinVar dbSNP |
13 | g.32356492G>C | CA387743402 | BRCA2 | c.7500G>C (p.Arg2500Ser) c.7131G>C (p.Arg2377Ser) c.65G>C n.7500G>C c.7404G>C (p.Arg2468Ser) | ClinVar dbSNP |
13 | g.32356492G= | CA2082814496 | BRCA2 | c.7500G= (p.Arg2500=) c.7131G= (p.Arg2377=) c.65G= n.7500G= c.7404G= (p.Arg2468=) | |
13 | g.32356492G>T | CA387743403 | BRCA2 | c.7500G>T (p.Arg2500Ser) c.7131G>T (p.Arg2377Ser) c.65G>T n.7500G>T c.7404G>T (p.Arg2468Ser) | |
13 | g.32356492_32356493del | CA2695199716 | BRCA2 | c.7500_7501del (p.Gln2501ThrfsTer?) c.7131_7132del (p.Gln2378ThrfsTer?) c.65_66del n.7500_7501del c.7404_7405del (p.Gln2469ThrfsTer?) | ClinVar |
13 | g.32356493C>A | CA387743406 | BRCA2 | c.7501C>A (p.Gln2501Lys) c.7132C>A (p.Gln2378Lys) c.66C>A n.7501C>A c.7405C>A (p.Gln2469Lys) | dbSNP |
13 | g.32356493C= | CA2082814507 | BRCA2 | c.7501C= (p.Gln2501=) c.7132C= (p.Gln2378=) c.66C= n.7501C= c.7405C= (p.Gln2469=) | |
13 | g.32356493C>G | CA387743408 | BRCA2 | c.7501C>G (p.Gln2501Glu) c.7132C>G (p.Gln2378Glu) c.66C>G n.7501C>G c.7405C>G (p.Gln2469Glu) | dbSNP |
13 | g.32356493C>T | CA10589432 | BRCA2 | c.7501C>T (p.Gln2501Ter) c.7132C>T (p.Gln2378Ter) c.66C>T n.7501C>T c.7405C>T (p.Gln2469Ter) | ClinVar dbSNP |
13 | g.32356494A= | CA2082814513 | BRCA2 | c.7502A= (p.Gln2501=) c.7133A= (p.Gln2378=) c.67A= n.7502A= c.7406A= (p.Gln2469=) | |
13 | g.32356494A>C | CA387743419 | BRCA2 | c.7502A>C (p.Gln2501Pro) c.7133A>C (p.Gln2378Pro) c.67A>C n.7502A>C c.7406A>C (p.Gln2469Pro) | |
13 | g.32356494A>G | CA387743415 | BRCA2 | c.7502A>G (p.Gln2501Arg) c.7133A>G (p.Gln2378Arg) c.67A>G n.7502A>G c.7406A>G (p.Gln2469Arg) | ClinVar dbSNP |
13 | g.32356494A>T | CA387743411 | BRCA2 | c.7502A>T (p.Gln2501Leu) c.7133A>T (p.Gln2378Leu) c.67A>T n.7502A>T c.7406A>T (p.Gln2469Leu) | |
13 | g.32356494_32356498delinsAACGC | CA2082814511 | BRCA2 | c.7502_7506delinsAACGC (p.Gln2501=) c.7133_7137delinsAACGC (p.Gln2378=) c.67_71delinsAACGC n.7502_7506delinsAACGC c.7406_7410delinsAACGC (p.Gln2469=) | |
13 | g.32356495A= | CA2082814521 | BRCA2 | c.7503A= (p.Gln2501=) c.7134A= (p.Gln2378=) c.68A= n.7503A= c.7407A= (p.Gln2469=) | |
13 | g.32356495A>C | CA387743422 | BRCA2 | c.7503A>C (p.Gln2501His) c.7134A>C (p.Gln2378His) c.68A>C n.7503A>C c.7407A>C (p.Gln2469His) | dbSNP |
13 | g.32356495A>G | CA16606811 | BRCA2 | c.7503A>G (p.Gln2501=) c.7134A>G (p.Gln2378=) c.68A>G n.7503A>G c.7407A>G (p.Gln2469=) | ClinVar dbSNP gnomAD v4 |
13 | g.32356495A>T | CA387743424 | BRCA2 | c.7503A>T (p.Gln2501His) c.7134A>T (p.Gln2378His) c.68A>T n.7503A>T c.7407A>T (p.Gln2469His) | dbSNP gnomAD v4 |
13 | g.32356495_32356498del | CA10589433 | BRCA2 | c.7503_7506del (p.Arg2502SerfsTer21) c.7134_7137del (p.Arg2379SerfsTer21) c.68_71del n.7503_7506del c.7407_7410del (p.Arg2470SerfsTer21) | ClinVar dbSNP |
13 | g.32356495_32356503delinsACGCGTCTT | CA2082814528 | BRCA2 | c.7503_7511delinsACGCGTCTT (p.Gln2501=) c.7134_7142delinsACGCGTCTT (p.Gln2378=) c.68_76delinsACGCGTCTT n.7503_7511delinsACGCGTCTT c.7407_7415delinsACGCGTCTT (p.Gln2469=) | |
13 | g.32356496C>A | CA387743431 | BRCA2 | c.7504C>A (p.Arg2502Ser) c.7135C>A (p.Arg2379Ser) c.69C>A n.7504C>A c.7408C>A (p.Arg2470Ser) | ClinVar dbSNP |
13 | g.32356496C= | CA2082814548 | BRCA2 | c.7504C= (p.Arg2502=) c.7135C= (p.Arg2379=) c.69C= n.7504C= c.7408C= (p.Arg2470=) | |
13 | g.32356496C>G | CA387743435 | BRCA2 | c.7504C>G (p.Arg2502Gly) c.7135C>G (p.Arg2379Gly) c.69C>G n.7504C>G c.7408C>G (p.Arg2470Gly) | dbSNP |
13 | g.32356496C>T | CA025120 | BRCA2 | c.7504C>T (p.Arg2502Cys) c.7135C>T (p.Arg2379Cys) c.69C>T n.7504C>T c.7408C>T (p.Arg2470Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356496_32356503del | CA658683850 | BRCA2 | c.7504_7511del (p.Arg2502SerfsTer?) c.7135_7142del (p.Arg2379SerfsTer?) c.69_76del n.7504_7511del c.7408_7415del (p.Arg2470SerfsTer?) | ClinVar dbSNP |
13 | g.32356497G>A | CA025121 | BRCA2 | c.7505G>A (p.Arg2502His) c.7136G>A (p.Arg2379His) c.70G>A n.7505G>A c.7409G>A (p.Arg2470His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.32356497G>C | CA025122 | BRCA2 | c.7505G>C (p.Arg2502Pro) c.7136G>C (p.Arg2379Pro) c.70G>C n.7505G>C c.7409G>C (p.Arg2470Pro) | ClinVar dbSNP |
13 | g.32356497G= | CA2082814563 | BRCA2 | c.7505G= (p.Arg2502=) c.7136G= (p.Arg2379=) c.70G= n.7505G= c.7409G= (p.Arg2470=) | |
13 | g.32356497G>T | CA10579740 | BRCA2 | c.7505G>T (p.Arg2502Leu) c.7136G>T (p.Arg2379Leu) c.70G>T n.7505G>T c.7409G>T (p.Arg2470Leu) | ClinVar dbSNP |
13 | g.32356497dup | CA2695217910 | BRCA2 | c.7505dup (p.Val2503ArgfsTer?) c.7136dup (p.Val2380ArgfsTer?) c.70dup n.7505dup c.7409dup (p.Val2471ArgfsTer?) | |
13 | g.32356498del | CA2499222293 | BRCA2 | c.7506del (p.Val2503SerfsTer21) c.7137del (p.Val2380SerfsTer21) c.71del n.7506del c.7410del (p.Val2471SerfsTer21) | |
13 | g.32356498C>A | CA483260382 | BRCA2 | c.7506C>A (p.Arg2502=) c.7137C>A (p.Arg2379=) c.71C>A n.7506C>A c.7410C>A (p.Arg2470=) | ClinVar dbSNP |
13 | g.32356498C= | CA2082814579 | BRCA2 | c.7506C= (p.Arg2502=) c.7137C= (p.Arg2379=) c.71C= n.7506C= c.7410C= (p.Arg2470=) | |
13 | g.32356498C>G | CA10579741 | BRCA2 | c.7506C>G (p.Arg2502=) c.7137C>G (p.Arg2379=) c.71C>G n.7506C>G c.7410C>G (p.Arg2470=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356498C>T | CA025123 | BRCA2 | c.7506C>T (p.Arg2502=) c.7137C>T (p.Arg2379=) c.71C>T n.7506C>T c.7410C>T (p.Arg2470=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356498dup | CA2499222292 | BRCA2 | c.7506dup (p.Val2503ArgfsTer?) c.7137dup (p.Val2380ArgfsTer?) c.71dup n.7506dup c.7410dup (p.Val2471ArgfsTer?) | |
13 | g.32356498_32356499insTCTT | CA2573053822 | BRCA2 | c.7506_7507insTCTT (p.Val2503SerfsTer?) c.7137_7138insTCTT (p.Val2380SerfsTer?) c.71_72insTCTT n.7506_7507insTCTT c.7410_7411insTCTT (p.Val2471SerfsTer?) | ClinVar dbSNP |
13 | g.32356499G>A | CA025124 | BRCA2 | c.7507G>A (p.Val2503Ile) c.7138G>A (p.Val2380Ile) c.72G>A n.7507G>A c.7411G>A (p.Val2471Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356499G>C | CA387743445 | BRCA2 | c.7507G>C (p.Val2503Leu) c.7138G>C (p.Val2380Leu) c.72G>C n.7507G>C c.7411G>C (p.Val2471Leu) | dbSNP |
13 | g.32356499G= | CA2082814586 | BRCA2 | c.7507G= (p.Val2503=) c.7138G= (p.Val2380=) c.72G= n.7507G= c.7411G= (p.Val2471=) | |
13 | g.32356499G>T | CA387743447 | BRCA2 | c.7507G>T (p.Val2503Phe) c.7138G>T (p.Val2380Phe) c.72G>T n.7507G>T c.7411G>T (p.Val2471Phe) | COSMIC COSMIC |
13 | g.32356499_32356513delinsGTCTTTCCACAGCCA | CA2082814587 | BRCA2 | c.7507_7521delinsGTCTTTCCACAGCCA (p.Val2503=) c.7138_7152delinsGTCTTTCCACAGCCA (p.Val2380=) c.72_86delinsGTCTTTCCACAGCCA n.7507_7521delinsGTCTTTCCACAGCCA c.7411_7425delinsGTCTTTCCACAGCCA (p.Val2471=) | |
13 | g.32356500T>A | CA025125 | BRCA2 | c.7508T>A (p.Val2503Asp) c.7139T>A (p.Val2380Asp) c.73T>A n.7508T>A c.7412T>A (p.Val2471Asp) | ClinVar dbSNP |
13 | g.32356500T>C | CA387743450 | BRCA2 | c.7508T>C (p.Val2503Ala) c.7139T>C (p.Val2380Ala) c.73T>C n.7508T>C c.7412T>C (p.Val2471Ala) | dbSNP |
13 | g.32356500T>G | CA387743453 | BRCA2 | c.7508T>G (p.Val2503Gly) c.7139T>G (p.Val2380Gly) c.73T>G n.7508T>G c.7412T>G (p.Val2471Gly) | ClinVar dbSNP gnomAD v4 |
13 | g.32356500T= | CA2082814604 | BRCA2 | c.7508T= (p.Val2503=) c.7139T= (p.Val2380=) c.73T= n.7508T= c.7412T= (p.Val2471=) | |
13 | g.32356502_32356505dup | CA891844184 | BRCA2 | c.7510_7513dup (p.Pro2505LeufsTer?) c.7141_7144dup (p.Pro2382LeufsTer?) c.75_78dup n.7510_7513dup c.7414_7417dup (p.Pro2473LeufsTer?) | ClinVar dbSNP |
13 | g.32356500_32356513delinsG | CA10585934 | BRCA2 | c.7508_7521delinsG (p.Val2503GlyfsTer17) c.7139_7152delinsG (p.Val2380GlyfsTer17) c.73_86delinsG n.7508_7521delinsG c.7412_7425delinsG (p.Val2471GlyfsTer17) | ClinVar dbSNP |
13 | g.32356502_32356793del | CA2580087468 | BRCA2 | c.7510_7617+184del c.7141_7248+184del c.75_182+184del n.7510_7617+184del c.7414_7521+184del | ClinVar |
13 | g.32356501C>A | CA483260383 | BRCA2 | c.7509C>A (p.Val2503=) c.7140C>A (p.Val2380=) c.74C>A n.7509C>A c.7413C>A (p.Val2471=) | |
13 | g.32356501C= | CA2082814626 | BRCA2 | c.7509C= (p.Val2503=) c.7140C= (p.Val2380=) c.74C= n.7509C= c.7413C= (p.Val2471=) | |
13 | g.32356501C>G | CA025126 | BRCA2 | c.7509C>G (p.Val2503=) c.7140C>G (p.Val2380=) c.74C>G n.7509C>G c.7413C>G (p.Val2471=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356501C>T | CA10575927 | BRCA2 | c.7509C>T (p.Val2503=) c.7140C>T (p.Val2380=) c.74C>T n.7509C>T c.7413C>T (p.Val2471=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32356502T>A | CA387743465 | BRCA2 | c.7510T>A (p.Phe2504Ile) c.7141T>A (p.Phe2381Ile) c.75T>A n.7510T>A c.7414T>A (p.Phe2472Ile) | dbSNP |
13 | g.32356502T>C | CA387743463 | BRCA2 | c.7510T>C (p.Phe2504Leu) c.7141T>C (p.Phe2381Leu) c.75T>C n.7510T>C c.7414T>C (p.Phe2472Leu) | |
13 | g.32356502T>G | CA387743460 | BRCA2 | c.7510T>G (p.Phe2504Val) c.7141T>G (p.Phe2381Val) c.75T>G n.7510T>G c.7414T>G (p.Phe2472Val) | ClinVar dbSNP |
13 | g.32356502T= | CA2082814636 | BRCA2 | c.7510T= (p.Phe2504=) c.7141T= (p.Phe2381=) c.75T= n.7510T= c.7414T= (p.Phe2472=) | |
13 | g.32356503T>A | CA387743471 | BRCA2 | c.7511T>A (p.Phe2504Tyr) c.7142T>A (p.Phe2381Tyr) c.76T>A n.7511T>A c.7415T>A (p.Phe2472Tyr) | |
13 | g.32356503T>C | CA387743469 | BRCA2 | c.7511T>C (p.Phe2504Ser) c.7142T>C (p.Phe2381Ser) c.76T>C n.7511T>C c.7415T>C (p.Phe2472Ser) | |
13 | g.32356503T>G | CA387743473 | BRCA2 | c.7511T>G (p.Phe2504Cys) c.7142T>G (p.Phe2381Cys) c.76T>G n.7511T>G c.7415T>G (p.Phe2472Cys) | |
13 | g.32356504T>A | CA387743477 | BRCA2 | c.7512T>A (p.Phe2504Leu) c.7143T>A (p.Phe2381Leu) c.77T>A n.7512T>A c.7416T>A (p.Phe2472Leu) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.32356504T>C | CA483260384 | BRCA2 | c.7512T>C (p.Phe2504=) c.7143T>C (p.Phe2381=) c.77T>C n.7512T>C c.7416T>C (p.Phe2472=) | |
13 | g.32356504T>G | CA025128 | BRCA2 | c.7512T>G (p.Phe2504Leu) c.7143T>G (p.Phe2381Leu) c.77T>G n.7512T>G c.7416T>G (p.Phe2472Leu) | ClinVar dbSNP |
13 | g.32356504T= | CA2082814642 | BRCA2 | c.7512T= (p.Phe2504=) c.7143T= (p.Phe2381=) c.77T= n.7512T= c.7416T= (p.Phe2472=) | |
13 | g.32356505C>A | CA387743488 | BRCA2 | c.7513C>A (p.Pro2505Thr) c.7144C>A (p.Pro2382Thr) c.78C>A n.7513C>A c.7417C>A (p.Pro2473Thr) | dbSNP |
13 | g.32356505C>G | CA387743491 | BRCA2 | c.7513C>G (p.Pro2505Ala) c.7144C>G (p.Pro2382Ala) c.78C>G n.7513C>G c.7417C>G (p.Pro2473Ala) | ClinVar dbSNP |
13 | g.32356505C>T | CA387743494 | BRCA2 | c.7513C>T (p.Pro2505Ser) c.7144C>T (p.Pro2382Ser) c.78C>T n.7513C>T c.7417C>T (p.Pro2473Ser) | ClinVar dbSNP |
13 | g.32356506C>A | CA387743495 | BRCA2 | c.7514C>A (p.Pro2505Gln) c.7145C>A (p.Pro2382Gln) c.79C>A n.7514C>A c.7418C>A (p.Pro2473Gln) | ClinVar |
13 | g.32356506C= | CA2082814644 | BRCA2 | c.7514C= (p.Pro2505=) c.7145C= (p.Pro2382=) c.79C= n.7514C= c.7418C= (p.Pro2473=) | |
13 | g.32356506C>G | CA387743498 | BRCA2 | c.7514C>G (p.Pro2505Arg) c.7145C>G (p.Pro2382Arg) c.79C>G n.7514C>G c.7418C>G (p.Pro2473Arg) | dbSNP |
13 | g.32356506C>T | CA247469878 | BRCA2 | c.7514C>T (p.Pro2505Leu) c.7145C>T (p.Pro2382Leu) c.79C>T n.7514C>T c.7418C>T (p.Pro2473Leu) | ClinVar dbSNP |
13 | g.32356507A= | CA2082814650 | BRCA2 | c.7515A= (p.Pro2505=) c.7146A= (p.Pro2382=) c.80A= n.7515A= c.7419A= (p.Pro2473=) | |
13 | g.32356507A>C | CA483260385 | BRCA2 | c.7515A>C (p.Pro2505=) c.7146A>C (p.Pro2382=) c.80A>C n.7515A>C c.7419A>C (p.Pro2473=) | dbSNP |
13 | g.32356507A>G | CA247469887 | BRCA2 | c.7515A>G (p.Pro2505=) c.7146A>G (p.Pro2382=) c.80A>G n.7515A>G c.7419A>G (p.Pro2473=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32356507A>T | CA483260386 | BRCA2 | c.7515A>T (p.Pro2505=) c.7146A>T (p.Pro2382=) c.80A>T n.7515A>T c.7419A>T (p.Pro2473=) | dbSNP |
13 | g.32356508C>A | CA387743502 | BRCA2 | c.7516C>A (p.Gln2506Lys) c.7147C>A (p.Gln2383Lys) c.81C>A n.7516C>A c.7420C>A (p.Gln2474Lys) | |
13 | g.32356508C= | CA2082814658 | BRCA2 | c.7516C= (p.Gln2506=) c.7147C= (p.Gln2383=) c.81C= n.7516C= c.7420C= (p.Gln2474=) | |
13 | g.32356508C>G | CA387743504 | BRCA2 | c.7516C>G (p.Gln2506Glu) c.7147C>G (p.Gln2383Glu) c.81C>G n.7516C>G c.7420C>G (p.Gln2474Glu) | ClinVar dbSNP |
13 | g.32356508C>T | CA10579742 | BRCA2 | c.7516C>T (p.Gln2506Ter) c.7147C>T (p.Gln2383Ter) c.81C>T n.7516C>T c.7420C>T (p.Gln2474Ter) | ClinVar dbSNP gnomAD v4 |
13 | g.32356509A>C | CA387743513 | BRCA2 | c.7517A>C (p.Gln2506Pro) c.7148A>C (p.Gln2383Pro) c.82A>C n.7517A>C c.7421A>C (p.Gln2474Pro) | |
13 | g.32356509A>G | CA387743511 | BRCA2 | c.7517A>G (p.Gln2506Arg) c.7148A>G (p.Gln2383Arg) c.82A>G n.7517A>G c.7421A>G (p.Gln2474Arg) | ClinVar dbSNP |
13 | g.32356509A>T | CA387743508 | BRCA2 | c.7517A>T (p.Gln2506Leu) c.7148A>T (p.Gln2383Leu) c.82A>T n.7517A>T c.7421A>T (p.Gln2474Leu) | dbSNP |
13 | g.32356509dup | CA10589434 | BRCA2 | c.7517dup (p.Pro2507AlafsTer?) c.7148dup (p.Pro2384AlafsTer?) c.82dup n.7517dup c.7421dup (p.Pro2475AlafsTer?) | ClinVar dbSNP |
13 | g.32356509_32356510delinsAG | CA2082814675 | BRCA2 | c.7517_7518delinsAG (p.Gln2506=) c.7148_7149delinsAG (p.Gln2383=) c.82_83delinsAG n.7517_7518delinsAG c.7421_7422delinsAG (p.Gln2474=) | |
13 | g.32356510del | CA10589435 | BRCA2 | c.7518del (p.Gln2506HisfsTer18) c.7149del (p.Gln2383HisfsTer18) c.83del n.7518del c.7422del (p.Gln2474HisfsTer18) | ClinVar dbSNP |
13 | g.32356510G>A | CA483260387 | BRCA2 | c.7518G>A (p.Gln2506=) c.7149G>A (p.Gln2383=) c.83G>A n.7518G>A c.7422G>A (p.Gln2474=) | ClinVar dbSNP gnomAD v4 |
13 | g.32356510G>C | CA387743517 | BRCA2 | c.7518G>C (p.Gln2506His) c.7149G>C (p.Gln2383His) c.83G>C n.7518G>C c.7422G>C (p.Gln2474His) | dbSNP |
13 | g.32356510G= | CA2082814689 | BRCA2 | c.7518G= (p.Gln2506=) c.7149G= (p.Gln2383=) c.83G= n.7518G= c.7422G= (p.Gln2474=) | |
13 | g.32356510G>T | CA6941105 | BRCA2 | c.7518G>T (p.Gln2506His) c.7149G>T (p.Gln2383His) c.83G>T n.7518G>T c.7422G>T (p.Gln2474His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32356511C>A | CA387743522 | BRCA2 | c.7519C>A (p.Pro2507Thr) c.7150C>A (p.Pro2384Thr) c.84C>A n.7519C>A c.7423C>A (p.Pro2475Thr) | dbSNP |
13 | g.32356511C= | CA2082814713 | BRCA2 | c.7519C= (p.Pro2507=) c.7150C= (p.Pro2384=) c.84C= n.7519C= c.7423C= (p.Pro2475=) | |
13 | g.32356511C>G | CA10579743 | BRCA2 | c.7519C>G (p.Pro2507Ala) c.7150C>G (p.Pro2384Ala) c.84C>G n.7519C>G c.7423C>G (p.Pro2475Ala) | ClinVar dbSNP |
13 | g.32356511C>T | CA387743524 | BRCA2 | c.7519C>T (p.Pro2507Ser) c.7150C>T (p.Pro2384Ser) c.84C>T n.7519C>T c.7423C>T (p.Pro2475Ser) | dbSNP |
13 | g.32356512C>A | CA387743526 | BRCA2 | c.7520C>A (p.Pro2507Gln) c.7151C>A (p.Pro2384Gln) c.85C>A n.7520C>A c.7424C>A (p.Pro2475Gln) | gnomAD v4 |
13 | g.32356512C= | CA2082814719 | BRCA2 | c.7520C= (p.Pro2507=) c.7151C= (p.Pro2384=) c.85C= n.7520C= c.7424C= (p.Pro2475=) | |
13 | g.32356512C>G | CA387743528 | BRCA2 | c.7520C>G (p.Pro2507Arg) c.7151C>G (p.Pro2384Arg) c.85C>G n.7520C>G c.7424C>G (p.Pro2475Arg) | dbSNP |
13 | g.32356512C>T | CA10579744 | BRCA2 | c.7520C>T (p.Pro2507Leu) c.7151C>T (p.Pro2384Leu) c.85C>T n.7520C>T c.7424C>T (p.Pro2475Leu) | ClinVar dbSNP |
13 | g.32356513A= | CA2082814727 | BRCA2 | c.7521A= (p.Pro2507=) c.7152A= (p.Pro2384=) c.86A= n.7521A= c.7425A= (p.Pro2475=) | |
13 | g.32356513A>C | CA483260388 | BRCA2 | c.7521A>C (p.Pro2507=) c.7152A>C (p.Pro2384=) c.86A>C n.7521A>C c.7425A>C (p.Pro2475=) | ClinVar |
13 | g.32356513A>G | CA025129 | BRCA2 | c.7521A>G (p.Pro2507=) c.7152A>G (p.Pro2384=) c.86A>G n.7521A>G c.7425A>G (p.Pro2475=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356513A>T | CA483260389 | BRCA2 | c.7521A>T (p.Pro2507=) c.7152A>T (p.Pro2384=) c.86A>T n.7521A>T c.7425A>T (p.Pro2475=) | ClinVar dbSNP |
13 | g.32356514G>A | CA025130 | BRCA2 | c.7522G>A (p.Gly2508Ser) c.7153G>A (p.Gly2385Ser) c.87G>A n.7522G>A c.7426G>A (p.Gly2476Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356514G>C | CA387743535 | BRCA2 | c.7522G>C (p.Gly2508Arg) c.7153G>C (p.Gly2385Arg) c.87G>C n.7522G>C c.7426G>C (p.Gly2476Arg) | ClinVar dbSNP |
13 | g.32356514G= | CA2082814733 | BRCA2 | c.7522G= (p.Gly2508=) c.7153G= (p.Gly2385=) c.87G= n.7522G= c.7426G= (p.Gly2476=) | |
13 | g.32356514G>T | CA387743536 | BRCA2 | c.7522G>T (p.Gly2508Cys) c.7153G>T (p.Gly2385Cys) c.87G>T n.7522G>T c.7426G>T (p.Gly2476Cys) | dbSNP |
13 | g.32356515G>A | CA025131 | BRCA2 | c.7523G>A (p.Gly2508Asp) c.7154G>A (p.Gly2385Asp) c.88G>A n.7523G>A c.7427G>A (p.Gly2476Asp) | ClinVar dbSNP gnomAD v4 |
13 | g.32356515G>C | CA387743543 | BRCA2 | c.7523G>C (p.Gly2508Ala) c.7154G>C (p.Gly2385Ala) c.88G>C n.7523G>C c.7427G>C (p.Gly2476Ala) | dbSNP |
13 | g.32356515G= | CA2082814748 | BRCA2 | c.7523G= (p.Gly2508=) c.7154G= (p.Gly2385=) c.88G= n.7523G= c.7427G= (p.Gly2476=) | |
13 | g.32356515G>T | CA387743540 | BRCA2 | c.7523G>T (p.Gly2508Val) c.7154G>T (p.Gly2385Val) c.88G>T n.7523G>T c.7427G>T (p.Gly2476Val) | |
13 | g.32356516C>A | CA483260390 | BRCA2 | c.7524C>A (p.Gly2508=) c.7155C>A (p.Gly2385=) c.89C>A n.7524C>A c.7428C>A (p.Gly2476=) | ClinVar dbSNP |
13 | g.32356516C= | CA2082814757 | BRCA2 | c.7524C= (p.Gly2508=) c.7155C= (p.Gly2385=) c.89C= n.7524C= c.7428C= (p.Gly2476=) | |
13 | g.32356516C>G | CA483260391 | BRCA2 | c.7524C>G (p.Gly2508=) c.7155C>G (p.Gly2385=) c.89C>G n.7524C>G c.7428C>G (p.Gly2476=) | dbSNP |
13 | g.32356516C>T | CA483260392 | BRCA2 | c.7524C>T (p.Gly2508=) c.7155C>T (p.Gly2385=) c.89C>T n.7524C>T c.7428C>T (p.Gly2476=) | ClinVar dbSNP gnomAD v4 |
13 | g.32356516_32356517insT | CA658823747 | BRCA2 | c.7524_7525insT (p.Ser2509Ter) c.7155_7156insT (p.Ser2386Ter) c.89_90insT n.7524_7525insT c.7428_7429insT (p.Ser2477Ter) | ClinVar dbSNP |
13 | g.32356517A= | CA2082814803 | BRCA2 | c.7525A= (p.Ser2509=) c.7156A= (p.Ser2386=) c.90A= n.7525A= c.7429A= (p.Ser2477=) | |
13 | g.32356517A>C | CA387743558 | BRCA2 | c.7525A>C (p.Ser2509Arg) c.7156A>C (p.Ser2386Arg) c.90A>C n.7525A>C c.7429A>C (p.Ser2477Arg) | ClinVar dbSNP |
13 | g.32356517A>G | CA387743547 | BRCA2 | c.7525A>G (p.Ser2509Gly) c.7156A>G (p.Ser2386Gly) c.90A>G n.7525A>G c.7429A>G (p.Ser2477Gly) | ClinVar dbSNP |
13 | g.32356517A>T | CA387743550 | BRCA2 | c.7525A>T (p.Ser2509Cys) c.7156A>T (p.Ser2386Cys) c.90A>T n.7525A>T c.7429A>T (p.Ser2477Cys) | dbSNP |
13 | g.32356517dup | CA025132 | BRCA2 | c.7525dup (p.Ser2509LysfsTer30) c.7156dup (p.Ser2386LysfsTer30) c.90dup n.7525dup c.7429dup (p.Ser2477LysfsTer30) | ClinVar dbSNP |
13 | g.32356517_32356518delinsGACT | CA2695199685 | BRCA2 | c.7525_7526delinsGACT (p.Ser2509AspfsTer16) c.7156_7157delinsGACT (p.Ser2386AspfsTer16) c.90_91delinsGACT n.7525_7526delinsGACT c.7429_7430delinsGACT (p.Ser2477AspfsTer16) | ClinVar |
13 | g.32356517_32356518insT | CA025133 | BRCA2 | c.7525_7526insT (p.Ser2509MetfsTer30) c.7156_7157insT (p.Ser2386MetfsTer30) c.90_91insT n.7525_7526insT c.7429_7430insT (p.Ser2477MetfsTer30) | ClinVar dbSNP |
13 | g.32356518G>A | CA387743561 | BRCA2 | c.7526G>A (p.Ser2509Asn) c.7157G>A (p.Ser2386Asn) c.91G>A n.7526G>A c.7430G>A (p.Ser2477Asn) | ClinVar dbSNP |
13 | g.32356518G>C | CA387743563 | BRCA2 | c.7526G>C (p.Ser2509Thr) c.7157G>C (p.Ser2386Thr) c.91G>C n.7526G>C c.7430G>C (p.Ser2477Thr) | ClinVar dbSNP |
13 | g.32356518G= | CA2082814820 | BRCA2 | c.7526G= (p.Ser2509=) c.7157G= (p.Ser2386=) c.91G= n.7526G= c.7430G= (p.Ser2477=) | |
13 | g.32356518G>T | CA387743568 | BRCA2 | c.7526G>T (p.Ser2509Ile) c.7157G>T (p.Ser2386Ile) c.91G>T n.7526G>T c.7430G>T (p.Ser2477Ile) | dbSNP |
13 | g.32356520_32356523dup | CA2580087473 | BRCA2 | c.7528_7531dup (p.Tyr2511SerfsTer29) c.7159_7162dup (p.Tyr2388SerfsTer29) c.93_96dup n.7528_7531dup c.7432_7435dup (p.Tyr2479SerfsTer29) | ClinVar |
13 | g.32356519T>A | CA387743569 | BRCA2 | c.7527T>A (p.Ser2509Arg) c.7158T>A (p.Ser2386Arg) c.92T>A n.7527T>A c.7431T>A (p.Ser2477Arg) | dbSNP |
13 | g.32356519T>C | CA483260393 | BRCA2 | c.7527T>C (p.Ser2509=) c.7158T>C (p.Ser2386=) c.92T>C n.7527T>C c.7431T>C (p.Ser2477=) | ClinVar dbSNP |
13 | g.32356519T>G | CA387743572 | BRCA2 | c.7527T>G (p.Ser2509Arg) c.7158T>G (p.Ser2386Arg) c.92T>G n.7527T>G c.7431T>G (p.Ser2477Arg) | dbSNP |
13 | g.32356519T= | CA2082814829 | BRCA2 | c.7527T= (p.Ser2509=) c.7158T= (p.Ser2386=) c.92T= n.7527T= c.7431T= (p.Ser2477=) | |
13 | g.32356520C>A | CA387743574 | BRCA2 | c.7528C>A (p.Leu2510Met) c.7159C>A (p.Leu2387Met) c.93C>A n.7528C>A c.7432C>A (p.Leu2478Met) | dbSNP |
13 | g.32356520C= | CA2082814842 | BRCA2 | c.7528C= (p.Leu2510=) c.7159C= (p.Leu2387=) c.93C= n.7528C= c.7432C= (p.Leu2478=) | |
13 | g.32356520C>G | CA387743576 | BRCA2 | c.7528C>G (p.Leu2510Val) c.7159C>G (p.Leu2387Val) c.93C>G n.7528C>G c.7432C>G (p.Leu2478Val) | dbSNP |
13 | g.32356520C>T | CA483260394 | BRCA2 | c.7528C>T (p.Leu2510=) c.7159C>T (p.Leu2387=) c.93C>T n.7528C>T c.7432C>T (p.Leu2478=) | ClinVar dbSNP |
13 | g.32356520_32356521delinsAC | CA2573149393 | BRCA2 | c.7528_7529delinsAC (p.Leu2510Thr) c.7159_7160delinsAC (p.Leu2387Thr) c.93_94delinsAC n.7528_7529delinsAC c.7432_7433delinsAC (p.Leu2478Thr) | ClinVar dbSNP |
13 | g.32356520_32356522delinsCTG | CA2082814838 | BRCA2 | c.7528_7530delinsCTG (p.Leu2510=) c.7159_7161delinsCTG (p.Leu2387=) c.93_95delinsCTG n.7528_7530delinsCTG c.7432_7434delinsCTG (p.Leu2478=) | |
13 | g.32356521T>A | CA387743582 | BRCA2 | c.7529T>A (p.Leu2510Gln) c.7160T>A (p.Leu2387Gln) c.94T>A n.7529T>A c.7433T>A (p.Leu2478Gln) | dbSNP |
13 | g.32356521T>C | CA025134 | BRCA2 | c.7529T>C (p.Leu2510Pro) c.7160T>C (p.Leu2387Pro) c.94T>C n.7529T>C c.7433T>C (p.Leu2478Pro) | ClinVar dbSNP |
13 | g.32356521T>G | CA387743580 | BRCA2 | c.7529T>G (p.Leu2510Arg) c.7160T>G (p.Leu2387Arg) c.94T>G n.7529T>G c.7433T>G (p.Leu2478Arg) | ClinVar dbSNP |
13 | g.32356521T= | CA2082814862 | BRCA2 | c.7529T= (p.Leu2510=) c.7160T= (p.Leu2387=) c.94T= n.7529T= c.7433T= (p.Leu2478=) | |
13 | g.32356522_32356523del | CA10589436 | BRCA2 | c.7530_7531del (p.Tyr2511SerfsTer27) c.7161_7162del (p.Tyr2388SerfsTer27) c.95_96del n.7530_7531del c.7434_7435del (p.Tyr2479SerfsTer27) | ClinVar dbSNP |
13 | g.32356522G>A | CA16606816 | BRCA2 | c.7530G>A (p.Leu2510=) c.7161G>A (p.Leu2387=) c.95G>A n.7530G>A c.7434G>A (p.Leu2478=) | ClinVar dbSNP gnomAD v4 |
13 | g.32356522G>C | CA483260395 | BRCA2 | c.7530G>C (p.Leu2510=) c.7161G>C (p.Leu2387=) c.95G>C n.7530G>C c.7434G>C (p.Leu2478=) | ClinVar dbSNP |
13 | g.32356522G= | CA2082814872 | BRCA2 | c.7530G= (p.Leu2510=) c.7161G= (p.Leu2387=) c.95G= n.7530G= c.7434G= (p.Leu2478=) | |
13 | g.32356522G>T | CA483260396 | BRCA2 | c.7530G>T (p.Leu2510=) c.7161G>T (p.Leu2387=) c.95G>T n.7530G>T c.7434G>T (p.Leu2478=) | |
13 | g.32356523T>A | CA387743584 | BRCA2 | c.7531T>A (p.Tyr2511Asn) c.7162T>A (p.Tyr2388Asn) c.96T>A n.7531T>A c.7435T>A (p.Tyr2479Asn) | ClinVar dbSNP |
13 | g.32356523T>C | CA387743586 | BRCA2 | c.7531T>C (p.Tyr2511His) c.7162T>C (p.Tyr2388His) c.96T>C n.7531T>C c.7435T>C (p.Tyr2479His) | ClinVar dbSNP gnomAD v4 |
13 | g.32356523T>G | CA387743588 | BRCA2 | c.7531T>G (p.Tyr2511Asp) c.7162T>G (p.Tyr2388Asp) c.96T>G n.7531T>G c.7435T>G (p.Tyr2479Asp) | dbSNP |
13 | g.32356523dup | CA2580087474 | BRCA2 | c.7531dup (p.Tyr2511LeufsTer28) c.7162dup (p.Tyr2388LeufsTer28) c.96dup n.7531dup c.7435dup (p.Tyr2479LeufsTer28) | ClinVar |
13 | g.32356524A= | CA2082814878 | BRCA2 | c.7532A= (p.Tyr2511=) c.7163A= (p.Tyr2388=) c.97A= n.7532A= c.7436A= (p.Tyr2479=) | |
13 | g.32356524A>C | CA387743591 | BRCA2 | c.7532A>C (p.Tyr2511Ser) c.7163A>C (p.Tyr2388Ser) c.97A>C n.7532A>C c.7436A>C (p.Tyr2479Ser) | dbSNP |
13 | g.32356524A>G | CA16619764 | BRCA2 | c.7532A>G (p.Tyr2511Cys) c.7163A>G (p.Tyr2388Cys) c.97A>G n.7532A>G c.7436A>G (p.Tyr2479Cys) | ClinVar dbSNP |
13 | g.32356524A>T | CA387743595 | BRCA2 | c.7532A>T (p.Tyr2511Phe) c.7163A>T (p.Tyr2388Phe) c.97A>T n.7532A>T c.7436A>T (p.Tyr2479Phe) | dbSNP |
13 | g.32356525T>A | CA387743596 | BRCA2 | c.7533T>A (p.Tyr2511Ter) c.7164T>A (p.Tyr2388Ter) c.98T>A n.7533T>A c.7437T>A (p.Tyr2479Ter) | |
13 | g.32356525T>C | CA483260397 | BRCA2 | c.7533T>C (p.Tyr2511=) c.7164T>C (p.Tyr2388=) c.98T>C n.7533T>C c.7437T>C (p.Tyr2479=) | |
13 | g.32356525T>G | CA387743598 | BRCA2 | c.7533T>G (p.Tyr2511Ter) c.7164T>G (p.Tyr2388Ter) c.98T>G n.7533T>G c.7437T>G (p.Tyr2479Ter) | |
13 | g.32356526del | CA2580087475 | BRCA2 | c.7534del (p.Ala2513GlnfsTer11) c.7165del (p.Ala2390GlnfsTer11) c.1del (p.Ala2GlnfsTer11) c.99del n.7534del c.7438del (p.Ala2481GlnfsTer11) | ClinVar dbSNP |
13 | g.32356526C>A | CA387743599 | BRCA2 | c.7534C>A (p.Leu2512Ile) c.7165C>A (p.Leu2389Ile) c.1C>A (p.Leu1Ile) c.99C>A n.7534C>A c.7438C>A (p.Leu2480Ile) | |
13 | g.32356526C= | CA2082814884 | BRCA2 | c.7534C= (p.Leu2512=) c.7165C= (p.Leu2389=) c.1C= (p.Leu1=) c.99C= n.7534C= c.7438C= (p.Leu2480=) | |
13 | g.32356526C>G | CA387743601 | BRCA2 | c.7534C>G (p.Leu2512Val) c.7165C>G (p.Leu2389Val) c.1C>G (p.Leu1Val) c.99C>G n.7534C>G c.7438C>G (p.Leu2480Val) | dbSNP |
13 | g.32356526C>T | CA025136 | BRCA2 | c.7534C>T (p.Leu2512Phe) c.7165C>T (p.Leu2389Phe) c.1C>T (p.Leu1Phe) c.99C>T n.7534C>T c.7438C>T (p.Leu2480Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356527T>A | CA387743605 | BRCA2 | c.7535T>A (p.Leu2512His) c.7166T>A (p.Leu2389His) c.2T>A (p.Leu1His) c.100T>A n.7535T>A c.7439T>A (p.Leu2480His) | dbSNP |
13 | g.32356527T>C | CA387743607 | BRCA2 | c.7535T>C (p.Leu2512Pro) c.7166T>C (p.Leu2389Pro) c.2T>C (p.Leu1Pro) c.100T>C n.7535T>C c.7439T>C (p.Leu2480Pro) | ClinVar dbSNP |
13 | g.32356527T>G | CA387743610 | BRCA2 | c.7535T>G (p.Leu2512Arg) c.7166T>G (p.Leu2389Arg) c.2T>G (p.Leu1Arg) c.100T>G n.7535T>G c.7439T>G (p.Leu2480Arg) | |
13 | g.32356527T= | CA2082814894 | BRCA2 | c.7535T= (p.Leu2512=) c.7166T= (p.Leu2389=) c.2T= (p.Leu1=) c.100T= n.7535T= c.7439T= (p.Leu2480=) | |
13 | g.32356528T>A | CA483260398 | BRCA2 | c.7536T>A (p.Leu2512=) c.7167T>A (p.Leu2389=) c.3T>A (p.Leu1=) c.101T>A n.7536T>A c.7440T>A (p.Leu2480=) | dbSNP |
13 | g.32356528T>C | CA483260399 | BRCA2 | c.7536T>C (p.Leu2512=) c.7167T>C (p.Leu2389=) c.3T>C (p.Leu1=) c.101T>C n.7536T>C c.7440T>C (p.Leu2480=) | ClinVar dbSNP |
13 | g.32356528T>G | CA483260400 | BRCA2 | c.7536T>G (p.Leu2512=) c.7167T>G (p.Leu2389=) c.3T>G (p.Leu1=) c.101T>G n.7536T>G c.7440T>G (p.Leu2480=) | ClinVar |
13 | g.32356528T= | CA2082814904 | BRCA2 | c.7536T= (p.Leu2512=) c.7167T= (p.Leu2389=) c.3T= (p.Leu1=) c.101T= n.7536T= c.7440T= (p.Leu2480=) | |
13 | g.32356529G>A | CA387743615 | BRCA2 | c.7537G>A (p.Ala2513Thr) c.7168G>A (p.Ala2390Thr) c.4G>A (p.Ala2Thr) c.102G>A n.7537G>A c.7441G>A (p.Ala2481Thr) | ClinVar dbSNP gnomAD v4 |
13 | g.32356529G>C | CA387743613 | BRCA2 | c.7537G>C (p.Ala2513Pro) c.7168G>C (p.Ala2390Pro) c.4G>C (p.Ala2Pro) c.102G>C n.7537G>C c.7441G>C (p.Ala2481Pro) | dbSNP gnomAD v4 |
13 | g.32356529G= | CA2082814916 | BRCA2 | c.7537G= (p.Ala2513=) c.7168G= (p.Ala2390=) c.4G= (p.Ala2=) c.102G= n.7537G= c.7441G= (p.Ala2481=) | |
13 | g.32356529G>T | CA387743612 | BRCA2 | c.7537G>T (p.Ala2513Ser) c.7168G>T (p.Ala2390Ser) c.4G>T (p.Ala2Ser) c.102G>T n.7537G>T c.7441G>T (p.Ala2481Ser) | |
13 | g.32356529_32356530delinsGC | CA2082814921 | BRCA2 | c.7537_7538delinsGC (p.Ala2513=) c.7168_7169delinsGC (p.Ala2390=) c.4_5delinsGC (p.Ala2=) c.102_103delinsGC n.7537_7538delinsGC c.7441_7442delinsGC (p.Ala2481=) | |
13 | g.32356529_32356539delinsGCAAAAACATC | CA2082814910 | BRCA2 | c.7537_7547delinsGCAAAAACATC (p.Ala2513=) c.7168_7178delinsGCAAAAACATC (p.Ala2390=) c.4_14delinsGCAAAAACATC (p.Ala2=) c.102_112delinsGCAAAAACATC n.7537_7547delinsGCAAAAACATC c.7441_7451delinsGCAAAAACATC (p.Ala2481=) | |
13 | g.32356529_32356545delinsGCAAAAACATCCACTCT | CA2082814908 | BRCA2 | c.7537_7553delinsGCAAAAACATCCACTCT (p.Ala2513=) c.7168_7184delinsGCAAAAACATCCACTCT (p.Ala2390=) c.4_20delinsGCAAAAACATCCACTCT (p.Ala2=) c.102_118delinsGCAAAAACATCCACTCT n.7537_7553delinsGCAAAAACATCCACTCT c.7441_7457delinsGCAAAAACATCCACTCT (p.Ala2481=) | |
13 | g.32356530del | CA025137 | BRCA2 | c.7538del (p.Ala2513GlufsTer11) c.7169del (p.Ala2390GlufsTer11) c.5del (p.Ala2GlufsTer11) c.103del n.7538del c.7442del (p.Ala2481GlufsTer11) | ClinVar dbSNP |
13 | g.32356530C>A | CA16614004 | BRCA2 | c.7538C>A (p.Ala2513Glu) c.7169C>A (p.Ala2390Glu) c.5C>A (p.Ala2Glu) c.103C>A n.7538C>A c.7442C>A (p.Ala2481Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32356530C= | CA2082814933 | BRCA2 | c.7538C= (p.Ala2513=) c.7169C= (p.Ala2390=) c.5C= (p.Ala2=) c.103C= n.7538C= c.7442C= (p.Ala2481=) | |
13 | g.32356530C>G | CA387743618 | BRCA2 | c.7538C>G (p.Ala2513Gly) c.7169C>G (p.Ala2390Gly) c.5C>G (p.Ala2Gly) c.103C>G n.7538C>G c.7442C>G (p.Ala2481Gly) | |
13 | g.32356530C>T | CA387743619 | BRCA2 | c.7538C>T (p.Ala2513Val) c.7169C>T (p.Ala2390Val) c.5C>T (p.Ala2Val) c.103C>T n.7538C>T c.7442C>T (p.Ala2481Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32356530_32356531delinsCA | CA2082814931 | BRCA2 | c.7538_7539delinsCA (p.Ala2513=) c.7169_7170delinsCA (p.Ala2390=) c.5_6delinsCA (p.Ala2=) c.103_104delinsCA n.7538_7539delinsCA c.7442_7443delinsCA (p.Ala2481=) | |
13 | g.32356532_32356541del | CA915946870 | BRCA2 | c.7540_7549del (p.Lys2514LeufsTer7) c.7171_7180del (p.Lys2391LeufsTer7) c.7_16del (p.Lys3LeufsTer7) c.105_114del n.7540_7549del c.7444_7453del (p.Lys2482LeufsTer7) | ClinVar dbSNP |
13 | g.32356530_32356545del | CA919242758 | BRCA2 | c.7538_7553del (p.Ala2513GlyfsTer6) c.7169_7184del (p.Ala2390GlyfsTer6) c.5_20del (p.Ala2GlyfsTer6) c.103_118del n.7538_7553del c.7442_7457del (p.Ala2481GlyfsTer6) | dbSNP |
13 | g.32356531A= | CA2082814947 | BRCA2 | c.7539A= (p.Ala2513=) c.7170A= (p.Ala2390=) c.6A= (p.Ala2=) c.104A= n.7539A= c.7443A= (p.Ala2481=) | |
13 | g.32356531A>C | CA483260401 | BRCA2 | c.7539A>C (p.Ala2513=) c.7170A>C (p.Ala2390=) c.6A>C (p.Ala2=) c.104A>C n.7539A>C c.7443A>C (p.Ala2481=) | |
13 | g.32356531A>G | CA483260402 | BRCA2 | c.7539A>G (p.Ala2513=) c.7170A>G (p.Ala2390=) c.6A>G (p.Ala2=) c.104A>G n.7539A>G c.7443A>G (p.Ala2481=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32356531A>T | CA483260403 | BRCA2 | c.7539A>T (p.Ala2513=) c.7170A>T (p.Ala2390=) c.6A>T (p.Ala2=) c.104A>T n.7539A>T c.7443A>T (p.Ala2481=) | dbSNP |
13 | g.32356535dup | CA025138 | BRCA2 | c.7543dup (p.Thr2515AsnfsTer24) c.7174dup (p.Thr2392AsnfsTer24) c.10dup (p.Thr4AsnfsTer24) c.108dup n.7543dup c.7447dup (p.Thr2483AsnfsTer24) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.32356535del | CA025139 | BRCA2 | c.7543del (p.Thr2515HisfsTer9) c.7174del (p.Thr2392HisfsTer9) c.10del (p.Thr4HisfsTer9) c.108del n.7543del c.7447del (p.Thr2483HisfsTer9) | ClinVar dbSNP |
13 | g.32356532A= | CA2082814954 | BRCA2 | c.7540A= (p.Lys2514=) c.7171A= (p.Lys2391=) c.7A= (p.Lys3=) c.105A= n.7540A= c.7444A= (p.Lys2482=) | |
13 | g.32356532A>C | CA387743623 | BRCA2 | c.7540A>C (p.Lys2514Gln) c.7171A>C (p.Lys2391Gln) c.7A>C (p.Lys3Gln) c.105A>C n.7540A>C c.7444A>C (p.Lys2482Gln) | dbSNP |
13 | g.32356532A>G | CA348259 | BRCA2 | c.7540A>G (p.Lys2514Glu) c.7171A>G (p.Lys2391Glu) c.7A>G (p.Lys3Glu) c.105A>G n.7540A>G c.7444A>G (p.Lys2482Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32356532A>T | CA387743626 | BRCA2 | c.7540A>T (p.Lys2514Ter) c.7171A>T (p.Lys2391Ter) c.7A>T (p.Lys3Ter) c.105A>T n.7540A>T c.7444A>T (p.Lys2482Ter) | dbSNP |
13 | g.32356533A= | CA2082814967 | BRCA2 | c.7541A= (p.Lys2514=) c.7172A= (p.Lys2391=) c.8A= (p.Lys3=) c.106A= n.7541A= c.7445A= (p.Lys2482=) | |
13 | g.32356533A>C | CA387743633 | BRCA2 | c.7541A>C (p.Lys2514Thr) c.7172A>C (p.Lys2391Thr) c.8A>C (p.Lys3Thr) c.106A>C n.7541A>C c.7445A>C (p.Lys2482Thr) | ClinVar dbSNP |
13 | g.32356533A>G | CA387743629 | BRCA2 | c.7541A>G (p.Lys2514Arg) c.7172A>G (p.Lys2391Arg) c.8A>G (p.Lys3Arg) c.106A>G n.7541A>G c.7445A>G (p.Lys2482Arg) | |
13 | g.32356533A>T | CA387743631 | BRCA2 | c.7541A>T (p.Lys2514Ile) c.7172A>T (p.Lys2391Ile) c.8A>T (p.Lys3Ile) c.106A>T n.7541A>T c.7445A>T (p.Lys2482Ile) | |
13 | g.32356534_32356541dup | CA2499222294 | BRCA2 | c.7542_7549dup (p.Thr2517LysfsTer10) c.7173_7180dup (p.Thr2394LysfsTer10) c.9_16dup (p.Thr6LysfsTer10) c.107_114dup n.7542_7549dup c.7446_7453dup (p.Thr2485LysfsTer10) | ClinVar dbSNP |
13 | g.32356534A>C | CA387743635 | BRCA2 | c.7542A>C (p.Lys2514Asn) c.7173A>C (p.Lys2391Asn) c.9A>C (p.Lys3Asn) c.107A>C n.7542A>C c.7446A>C (p.Lys2482Asn) | ClinVar |
13 | g.32356534A>G | CA483260404 | BRCA2 | c.7542A>G (p.Lys2514=) c.7173A>G (p.Lys2391=) c.9A>G (p.Lys3=) c.107A>G n.7542A>G c.7446A>G (p.Lys2482=) | |
13 | g.32356534A>T | CA387743637 | BRCA2 | c.7542A>T (p.Lys2514Asn) c.7173A>T (p.Lys2391Asn) c.9A>T (p.Lys3Asn) c.107A>T n.7542A>T c.7446A>T (p.Lys2482Asn) | dbSNP |
13 | g.32356535A= | CA2082814976 | BRCA2 | c.7543A= (p.Thr2515=) c.7174A= (p.Thr2392=) c.10A= (p.Thr4=) c.108A= n.7543A= c.7447A= (p.Thr2483=) | |
13 | g.32356535A>C | CA387743640 | BRCA2 | c.7543A>C (p.Thr2515Pro) c.7174A>C (p.Thr2392Pro) c.10A>C (p.Thr4Pro) c.108A>C n.7543A>C c.7447A>C (p.Thr2483Pro) | dbSNP gnomAD v2 |
13 | g.32356535A>G | CA387743642 | BRCA2 | c.7543A>G (p.Thr2515Ala) c.7174A>G (p.Thr2392Ala) c.10A>G (p.Thr4Ala) c.108A>G n.7543A>G c.7447A>G (p.Thr2483Ala) | |
13 | g.32356535A>T | CA387743645 | BRCA2 | c.7543A>T (p.Thr2515Ser) c.7174A>T (p.Thr2392Ser) c.10A>T (p.Thr4Ser) c.108A>T n.7543A>T c.7447A>T (p.Thr2483Ser) | ClinVar dbSNP |
13 | g.32356535_32356536delinsAC | CA2082814971 | BRCA2 | c.7543_7544delinsAC (p.Thr2515=) c.7174_7175delinsAC (p.Thr2392=) c.10_11delinsAC (p.Thr4=) c.108_109delinsAC n.7543_7544delinsAC c.7447_7448delinsAC (p.Thr2483=) |